The KS Story WARNING The You are not alone An introduction to a “common AN INFORMATIVE GUIDE & FURTHER STUDY The KS Story You are not alone genetic condition” The KS Story is the culmination of twelve years ongoing study contains frank and and a reference and an emotional journey through the workings of the congenital sensitive information book for those chromosome condition Klinefelter’s Syndrome (KS). of a gender & sexual seeking research & The book was created primarily as a conduit to respected support nature, relating to Klinefelter’s Story support group groups, medical specialists and research units, with a chapter Syndrome and the information devoted to further study, including a comprehensive support effects it has on an not e advice and address and online section and a selection of books, research individual u ar advice and Yo lifelong support papers, medical journals and scientific magazines. e lifelong support The book also offers a glimpse into the various aspects of alon Klinefelter’s Syndrome; showing how it affects individuals and those who love, care and treat them. The KS Story has been compiled by a person with Klinefelter’s Syndrome (karyotype: 47,XXY), from reputable medical, research and support group sources, and with the help and support of several UK and international scientists in the fields of biology, Klinefelter’s cytogenetics, endocrinology, neuroscience and sexology. To balance the overwhelming amount of data there is a degree of Syndrome comic relief in the writing, with a sprinkling of cartoons. All that is asked, is that you please put aside any preconceived Y ideas or stereotypes and view the guide with a respectful and AN INFORMATIVE GUIDE open mind. & FURTHER STUDY XXY The KS Story You are not alone Copyright © Iain W McKinlay, XXXXY 1999-2010 The KS Diaries Design, cartoons, Compiler: Iain W McKinlay 47,XXY LIVING WITH KLINEFELTER’S SYNDROME non-contributed text and Y•XY/XXY diagrams Foreword by: Sensitive, fearful, powerful, touching, forgiving, loving... First edition 2010 Prof Milton Diamond Ph.D. Self-published as a pdf. A planned second book (pdf) will present personal histories of XY•XXYA reference•XXXY book childhood, adolescence and adulthood titled: The KS Diaries Notice of Rights for healthcare All rights reserved. and will give you a glimpse through the eyes of those who live Y•XY•To informXXYY professionals,•XXYY Copying individuals with counsellors and and cope with Klinefelter’s Syndrome every day. Making copies of any part of this Klinefelter’s Syndrome anyone who works book for any purpose, other However, this book is subject to you and people like you. If you than for your own personal use, /XXY•parents,XY/XXY family members•XY/XXXYwith children and and as stated in ‘About this book’ partners and the general public young people wish to contribute your own KS story, please see page 80. on page 12, is a violation of UK Copyright Laws. XXXY•XXY•XXXY•XXXXY•XXY The after birth, generally because of a Add to that the rarer male in general, I offer this informative lack of academic or social skills karyotypes and mosaics (please see guide to Klinefelter’s Syndrome . pre-puberty, including physical p23); parents & family members; Story not If The KS Story can help just one You are aspects at around puberty and spouses/partners; relatives... alone through the teenage years, to and you have a substantial person take those first steps to infertility problems as adults, or as number of people involved with finding the truth about themselves “It is strange to think that a a result of obesity, osteoporosis, Klinefelter’s Syndrome. and seeking any appropriate condition which was discovered in diabetes, or other possible linked treatment, or give a parent, spouse 1942 is still basically unknown to conditions in later life. With only a few hundred or partner whoY has noticed changes the general population, even registered with UK support Ygroups, in their loved one vital though it is now classed as a To those with KS, there will be I believe there is a needX for more information, thenY the guide “common genetic condition” in some with mild implications education. However, knowing XXXwill have madeY a difference and males (1:750-1000). while there will be others who where to look forX reputable sources I’ll be Xmore than satisfied.Y” suffer in silence, aware that they of information is another• story.X X And the reason? It comes down to are different but oblivious to the •XIain W McKinlay 2010. Invisibility and Complexity. condition and support networks Y YPhenotype n. The observable characteristics of an ‘Invisibility,’ in that generally no and afraid to openly discuss their For the many individuals who individual... characteristics (phenotype) are feelings with their parents, know thereXX is something not quite Karyotype n. The chromosome set of an individual... AneuploidyXX/Xn. The condition in Ywhich a chromosome present at birth, so diagnosis is not right about themselves and who • number of a cell is not an exact Spouse/partner or doctor. X multiple... (e.g. X or XXY). usually made at this time, unless may feel confused or alone. YTrisomy n. An aneuploidy condition where there is Commenting purely on the UK, I XXan extra chromosome present within the mother has undergone specific XXXX each cell of the body... (e.g. XXY). am unaware of any national figure For those who have just beenX karyotype tests, possibly for X (Please look at a medical dictionary or online for a full diagnosed, feel fine, but want to description of the above terms. aneuploidy conditions in older of diagnosed individuals, however, Y understand the mechanisms See page 13 / M2 in margin, for two online encyclopedia mothers; generally over 35 years given the current estimate for examples you could try. There are a load out there, so find behind their traits and symptoms. the one that suits youX best). old, examples: trisomy 13, 18, annual live births of between 400 XY/X XY/XX 21 (Down’s Syndrome), or X & Y and 500 for the more frequent For the aforementioned people and (Klinefelter’s Syndrome). 47,XXY karyotype and an upper with respect, to doctors & medical age of 80, there is a potential for staff, health workers, teachers and ‘Complexity’ also plays a part, as around 40,000 people in the UK anyone who works with children those with Klinefelter’s Syndrome walking around with and young people – and for society can also be diagnosed at any time Klinefelter’s Syndrome. The KS Story has been compiled from medical papers, journals, books and the Internet, from respected research & medical specialists and support groups, by an individual with Klinefelter’s Syndrome (XXY). for their love, support and understanding The KS Story is not mine alone, The KS Story guide is dedicated to: but a fusion of knowledge and experience offered by the latter m y f a m i l y dedicated and compassionate people who have contributed to xxx its content.

Harry Fitch Klinefelter Jr This informative guide is Klinefelter, Harry F. Jr., MD; Reifenstein, Edward C. Jr., MD; Albright, Fuller MD, offered primarily as a conduit ‘Syndrome characterised by Gynaecomastia, Aspermatogenesis to the above people, to whom without A-Leydigism and increased excretion of Follicle Stimulating Hormone’, The Journal of Clinical Endocrinology & Metabolism, 2:615-27, 1942. you should direct all enquiries Image courtesy of for the most appropriate The Alan Mason Chesney Medical Archives of the Johns Hopkins Medical Institutions. support, advice and literature. All that I ask, is that you please put aside any preconceived ideas or stereotypes and view the following pages with an open and respectful mind.

The

Story t u are no Patricia A Jacobs OBE Yo one Jacobs, P. A. and Strong, J. A. alo ‘A case of human intersexuality having a possible sex-determining mechanism’, Nature, Lond. 183:302-303, 1959. Image kindly supplied by Prof P A Jacobs. Foreword everyone to be the same. This often leads Furthering knowledge of these common differences of development to Klinefelter’s Syndrome XXY The Most Common be hidden. And like many other matters Genetic Difference related to our lives, especially those of a It was never my intention to profit from this personal nature, one’s Klinefelter’s condition book, merely to ‘do my bit’ and to stop going Milton Diamond Ph.D. is most often kept private even from those stir-crazy while undergoing extensive medical University of Hawaii John A. Burns School of Medicine USA close to us. Physicians and others dealing treatment. Image kindly supplied by Prof M Diamond. with these conditions as medical phenomena However, while I am delighted to offer usually maintain a public quietness about it The KS Story to you as a gift, may I ask one since having an XXY or analogous favour? That you please consider a donation When Iain McKinlay approached me with Despite the relative widespread chromosome combination has often been to help support the organisation where you questions about Klinefelter’s syndrome for a occurrence of the XXY combination in people accompanied by stigma or shame. It obtained the pdf with their educational book he was writing on the subject I was the condition has only come out of the emphatically deserves neither. Klinefelter’s projects. The amount is your choice; surprised. As one of the more common medical and scientific community to common condition is a spontaneous genetic whatever you feel is appropriate. atypical genetic conditions I thought a book attention about a decade or so ago. And the occurrence. And, the variability in how it will on the subject would have been done several way it has become understood has varied effect or manifest in any one individual is so You will be contributing towards valuable times over from not only scientific and greatly. Some concentrate attention on the large that many clinicians do not even assign work and furthering the knowledge of medical perspectives but also from different genetics involved and others attend more to the condition name unless a host of Klinefelter’s Syndrome in your own country personal points of view. I was quite mistaken. behavioural or potential medical concerns or nonchromosomal features exist. and around the world. There were none to be found. Certainly many consequences of having any of the Klinefelter’s Without doubt this book can and will Most support groups have secure scientific, medical and informative articles combinations e.g., XXY, XXXY, XXYY. Some serve as a starting place from which many payment methods online, or you can send covered the topic but nothing existed that consider Klinefelter’s syndrome and its many readers will go further. There are all sorts of them a cheque or postal order. If you’re not attempted to gather all aspects of the subject variations as intersex conditions, others resources listed. sure, just ask them. for the average reader. There was especially don’t. In any case it is a uniting of typical X That said, there’s absolutely no nothing generally readily and in detail and Y chromosomes to form different The book is unique for several reasons in arm-twisting and I’m not expecting anyone available for those individuals with the combinations. This fusion occurs naturally addition to the subject matter covered. It is on pocket money to contribute! condition or for their family and friends, or and in different forms for the same reasons the product of Iain’s individual labor of even for those just interested or curious who that there is variation in just about intense curiosity and creativity, it is a work of If you are a professional who has obtained wanted more information. everything in nature. We all develop with Iain’s talent as a book designer, and the the pdf, then your interest is a donation in different hair, eye and complexion colors, of contained drawings and art work are itself and I would not expect researchers, In this volume you will find exactly that. different height and weight and variation in testament to his artistic abilities. His consultants and other healthcare Iain McKinlay presents, in a candid and direct all other characteristics. It is no different in generosity in offering this book to the public professionals to contribute – unless you wish way, those things he had found useful in his regard to sex and sexuality and genetics. is another mark of this special individual. I to of course. quest to understand his own XXY situation I summarize this by saying “Nature loves think many owe him great and heartfelt and aspects of himself. Here he presents his Alternatively, you might like to donate variety” we see it everywhere. Variety is one THANKS. findings so both he and the reader become your own KS story for the second book (pdf), of the mechanisms of evolution. From these fairly current in ability to answer many The KS Diaries (please see p80). differences the fittest characteristics compete personal questions that occur to those living to survive. Unfortunately, society often Humongous thanks. with this circumstance and others trying to doesn’t appreciate variety. It expects come to terms with it. Iain W McKinlay 2010 vi vii The KS Story – e not alon You are Important Information Contents

H PLEASE READ Foreword – By PROF MILTON DIAMOND Ph.D. vi Endocrinology WARNING ACKNOWLEDGMENTS 10 HORMONES Family, Friends & Contributors 10 References within text 11

You are not alone

g The KS Story – ABOUT THIS BOOK 12 g contains frank and sensitive information of a gender & WHO SHOULD READ THIS BOOK? 14 g sexual nature, relating to Klinefelter’s Syndrome and the What is Klinefelter’s Syndrome? 16 Gender effects it has on an individual The basics 16 A brief history of the people behind the syndrome 19 KS traits & symptoms 22 Karyotypes 23 ENDOCRINOLOGY 24 AG The Book (pdf) Hormone replacement therapy 24 Hormones - the chemical messengersY28 TC A PERSONAL MESSAGE 30 Genetics NOT TAKING ADVANTAGE THE SYMPTOM STORY Y 36 The purpose of creating this book is to supply pure information The physical and psychological aspects of Klinefelter’s Syndrome 36 Y about Klinefelter’s Syndrome and to point you in the right direction Includes a section on Testicle self-examination.X to reputable information, advice and support resources. CHROMOSOMES X XXX Y 40 What they are and where they are in the body 40 Y Other than specific contributors, credited and referenced within X Intersexi The KS Story and links to two free search engines (included for Starting with a cell, this section explains theX location of the chromosome X the convenience of the reader), this has been done without and its function within the body. • X commercialism or personal gain. HUMAN REPRODUCTION • 42 The female and male 42 Y To this end, no named products will be associated with, or The early days 46 Y promoted within The KS Story. ICSI – Intra-cytoplasmic Sperm Injection 48 Medicine If you wish specific information on a product, please contact an Assisted conception in cases of male infertility: the pros & cons 48 CLINICAL & SURGICAL XX advice or support group, or search for specific products online. Includes the difference between ICSI and IVF (in vitro fertilisation).XX/XY Disclaimer Please see page 86. Also includes:X prenatal diagnosis and screening procedures.• IS KS AN INTERSEX CONDITION? Y 52 Further Study (contact listings) BULLYING XX 56 Orthopaedics KLINEFELTER’S SYNDROMEXXXX – Links toX other conditions 58 CONTACT DETAILS SURGERY Includes aX section on Chest/Breast self-awareness. Please be assured that within the Further Study chapter all THE SEX/GENDER SPECTRUM – Terminology & Usage 63 contributors have supplied up-to-date [2010] contact information. Y Further Study 70 Some contact details, email or web addresses are likely to change Addresses and websites to support groups medical specialists and researchX units before the book pdf is updated in November 2012. Study introduction, cautions, suggestions andXY/X general tips on & off-line. Rheumatology Klinefelter’s SyndromeXY/X74 Separate Sex Chromosome VariationsX75 OSTEOPOROSIS DIFFERING VIEWPOINTS Other Issues 76 AVASCULAR NECROSIS While there may be differing views within the general population Brain research, Cancer, Diabetes, Endocrinology, Gender, Genetics, General medical, Infertility, and some support groups, in what Klinefelter’s Syndrome is, or Intersex 76-77 Intersex contd., Legal support, Osteoporosis, Planning a family, Rheumatology, isn’t, (e.g. Intersex), all contributors have approved (in writing) Someone to talk to 78 Books & Research papers, Medical journals & Science magazines 79 their contact details under a specific category heading. An important message 80 INTRODUCTION TO THE KS DIARIES 82 Closing thoughts 84 DISCLAIMER 86 viii ix The KS Story – e not alon You are References within text Steroid Hormones Acknowledgments The mass of the steroid Throughout this guide there are Acknowledgments to the many contributors hormones are sufficiently Family, Friends & Contributors small enough (lipophilic) to who have taken time out from their furious schedules to substantially assist pass easily from blood to Family & Friends ‘The KS Story’ Advisors a mere mortal with his studies. These people have been referenced within brain tissue. Chauffeur, welfare visits, food parcels and family My sincere thanks to the following research advisors the specific chapter margins. References for main advisors are shown below, Steroid hormones bind with gatherings. Just a few of the unselfish acts my with small red initials within the appropriate chapter text (e.g.PJ). steroid receptors in the for their invaluable and enthusiastic assistance, cytoplasm of cells in order to mother, sister and brother-in-law have provided in user-friendliness and patience: If appropriate, contact details and published work for the following regulate gene expression order to ease my passage through the last 14 years of Prof Milton Diamond, University of Hawaii, people can be found within the Further Study chapter (p74-79). (switch-on). The resultant pain, stress and uncertainty. But of course their love John A Burns School of Medicine, USA; processes translocate to the I would never knowingly plagiarise someone else’s work. With such a cell nucleus Kawata, CF. (1995). and support runs far deeper. Prof Patricia A Jacobs OBE, Wessex Regional Genetics large body of information and with an appaling memory, despite making Cholesterol is the precursor There are no words to express what they mean to me, Laboratory, UK; every effort to check my work, there may be information taken from a source for the five major steroid hormones: Androgens, no words to thank them for their continuing support Dr Shirley G Ratcliffe, Consultant Paediatrician from which I have forgotten to reference/credit. To those concerned I (Retired), UK; Oestrogens, Progestins, and understanding. That said, if I can help just one sincerely apologise and thank them for their wisdom. Glucocorticoids and child with Klinefelter’s Syndrome, or the parents of a Prof Anne Fausto-Sterling, Biology & Gender Studies, Mineralocorticoids. child or teenager with this condition, perhaps that Brown University, USA ; The testes secretes three MC Cull, M (AHN Founder), Adrenal Hyperplasia Network, UK. would go some way. Prof Dick F Swaab, The Netherlands Institute for gonadal steroid hormones Neuroscience, NL. MD Diamond, M (Professor), University of Hawaii, known collectively as Family acknowledgments would not be complete Androgens, including John A Burns School of Medicine, USA. without mentioning my father. He died in 198o after Unsung Heroes & Heroines Testosterone, A huge THANK YOU to the numerous Klinefelter’s AF-S Fausto-Sterling, A (Professor of Biology & Gender Studies), Dihydrotestosterone (DHT) many years of heart disease and 17 years before I was and Androsterone – diagnosed with Klinefelter’s Syndrome. With only the Syndrome information and support groups and Brown University, Rhode Island, USA. testosterone being the most traits & symptoms of KS apparent to him our individuals, and allied organisations in the UK and LG Gooren, L J G (Professor), Free University Hospital, important. relationship was ‘strained’ at times, but despite our worldwide who have assisted me with facts and Amsterdam, NL. There are also three figures for the book. They truly are the heroes & Oestrogens: Oestradiol, differences I think of him with love. PJ Jacobs, P A (Professor), Wessex Regional Genetics Oestrone and Oestriol. By far heroines of this book. I am rich in relatives and delight in our evolving love Laboratory, Salisbury, UK. the most important of these is oestradiol, the oestragenic and friendship. I am also grateful for their support Healthcare Professionals NCBI (Website) National Center for Biotechnology Information, potency of which is 12 times during recent cancer treatment (2009/10). Very special thanks to the following healthcare part of NLM/NIH, USA. oestrone and 80 times professionals who have treated me over the last 14 oestriol. Oestradiol is also the I am fortunate to have many good friends, evolving (Used in this book: PubMed & MedlinePlus). years. Also for reviewing The KS Story; making female equivalent of from holidays on the white stuff, Munro-bagging, testosterone in males. valuable suggestions and pleasing noises. SR Ratcliffe, S G (Consultant Paediatrician) retired. camping trips and annual BBQs of note. Previously at MRC Genetics Unit, Edinburgh, UK. (Androgens are also secreted Staff at the former Princess Margaret Rose in small amounts by the Of very close friends, I am privileged to have four. I MS Simmonds, M Androgen Insensitivity Syndrome Support Group, ovaries and adrenal cortex, and Orthopaedic Hospital and the New Royal Infirmary of continue to have a unique friendship with my x-wife. Banbury, UK. oestrogens by the latter, Of male friends, two are lifelong. Like brothers, Edinburgh. 2001 & 2003. Staff at Hay Lodge Health testes and placenta). DS Swaab, D F (Professor), Netherlands Institute for during our early teens my cousin and I went through Centre (The Practice): for allowing me to freely moon Recent studies show sex once a month (Male HRT). Hay Lodge Hospital (NHS Neuroscience, Amsterdam, NL. hormones & receptors exert the tentative actions of girl-chasing, but with shyness many actions beyond rarely caught any! At secondary school my second Trust), for 6 years of care; on the couch and scraped reproduction, such as: areas male friendship developed. He is now 3000 miles off the ceiling! Ward 1 for their healing hands and of the brain to do with unique humour. Medical & surgical staff at Borders learning and memory, away, yet we’re closer than ever. 26 years ago, the emotions, motor coordination third friendship started as graphic designer and General Hospital and the Borders Macmillan Centre and pain sensitivity. client. We thought alike and through many projects, (BGH), for their outstanding bedside manner and McEwan, (1999), Behaviour, and now frequent visits, a great friendship developed. interest in The KS Story. 2007-08 & 2009-10. mood, cognitive function. Also functions which could Only the aforementioned know of my struggles to Last and never least have important My GP, Dr P T Young, for helping me get through the neuropsychiatric and come to terms with who I am. They don’t all fully neurodegenerative diseases. understand my situation but they accept that which pain and stress of the last decade and for his faith (Swaab, DF. (2002); and support in my efforts to create The KS Story. Swaab, et al. (2003). they know. What more can anyone ask. K

10 11 CONTACTS p74 The KS Story – e not alon You are Unpronounceable mouthfuls M2 Direct Links Try some of the free online About this book Throughout the guide you will come across new and unfamiliar dictionaries or encyclopedias, M1 names and procedures. Don’t be put off by them. If you wish to such as: You can access email and w: http://en.wikipedia.org/ websites directly from this pdf Information overload! – just dabble know more about your condition it will help if you can understand Just click on the address. The KS Story is two things. Primarily it is a conduit to the various the meaning behind these unpronounceable mouthfuls. And it’s w: www.encylco.co.uk/ ADDRESS LINKS IN TWO OR support and scientific experts, but to get you started it also offers an amazing how quickly they just roll of the tongue – honest! Oh – and someone who knows MORE LINES overview of both Klinefelter’s Syndrome and conditions associated how to spell the word, would be Due to technical aspects If you plan to study your condition more fully, then I highly with it. Within these pages there is a great deal of information to an advantage! beyond my comprehension recommend the purchase of a good concise general and medical (grrr), website links in two or take in, but the book isn’t a novel; you don’t have to read it from Or, get yourself a phonetic dictionary. Believe me, they are invaluable. If you can’t stretch to more lines, will not function. cover to cover. Treat it as a reference book, just taking what you dictionary or a basic electronic For these links, take a note of the latter, your local library should be able to loan you the books. spelling corrector with a phonetic the address then manually need, that way hopefully you’ll retain more information and you Alternatively, you could check out any definitions online.M2 feature. add the additional lines of text won’t get bogged down in chapters that don’t interest you. You can to your browser’s website field. M3 then contact those groups within the Further Study chapter which Little red references Taken from a paper: by can assist with your specific needs.M1 Throughout this guide you will see a few little red letters and YProf Milton Diamond numbers within the text, which relate to additional information, or to (University of Hawaii, John A DID YOU KNOW? Please read the margin box on the opposite page, titled ‘Important’. original source references. For example: Burns School of Medicine) & Additional information can be Y Dr H Keith Sigmundson (Canada), found in these yellow Complexity and Study M5 additional information found within page margins; ManagementY of Intersexuality. background ‘Did you know’ Klinefelter’s Syndrome is a highly complex condition and cannot be X boxes, scattered throughout MD reference (see p11). the guide... generalised – everyone is different. As too are the different Y X XXX Double Page We live by words Y characteristics of a person (phenotypes/karyotypes), which are also X Spreads ...and very important complex and varied. (Further details see p22-23). Dictionaries and many medical papers continueX to use the words This pdf is laid out like an open book (2 pages),X so please information, on these green ‘normal’, ‘disorder’, ‘defective’, ‘abnormal’.• I’m not abnormal or X remember, if you are looking backgrounds. Sometimes The KS Story deals with Klinefelter’s Syndrome generally as a defective! Within the context of describing Klinefelter’s• Syndrome, I for a particular page (e.g. 51), with a red border. whole entity, though there is a bias towards 47,XXY in some Y you will have to go to page 26 have tried to use certain guidelines, laid out to eliminate some of on the pdf reader’s page chapters; basically because it’s my own karyotype and the one I M3 Y these offensive words. For example, for the word ‘normal’ the number field or thumbnail. PLEASE DON’T SCREAM studied the most. As mentioned, this book is an overview of KS, so words ‘typical’, ‘usual’ or ‘most frequent’ have been used, and AT ME! if you have another karyotype it should still be of interest to you. I would like to apologise in ‘condition’ ratherXX than ‘disorder’. Of course there are times when this advance for the appaling XX/X You can also go to the Further Study chapter, where you will find ImportantY spelling and punctuation is not possible,X e.g. within a support group name, or when• quoting within this book – but contacts and websites to support and research groups who can offer someone. The KS Story is written with grammar in particular. you a tremendous amount of information, on ALL karyotypes. These Y many people in mind. Who comes first? I have no idea what a past specialists will help you to understand more fully your own particular XX participle is or an inflexion, So as not to offendXXXX anyone; wherever possible, alphabetical order condition, your symptoms and your feelings, and if you wish, will put X Apart from those associated or really when to include a has been employed. semicolon or a coma you in touch with other KS individuals or families. X with KS and the general (limitations of spellchecker Who does what? public the guide also when you can’t spell). Copyright and Copying ‘The KS Story’ Y To differentiate between medical investigation and an individual informs healthcare This is due in part to years of You have permission to download the whole pdf or print off specific professionals and is looking out of classroom looking for information on their condition, throughout this book the X chapters or pages, or make copies of the pdf or photocopies of windows as a child; for word ‘research’ is used for the former, andXY/X ‘study’ for the latter. therefore technical in places, doodling inside my desk specific pages for your own studies; to give to family members, XY/X X so not all the information (can’t touch you for it); for Last but not least getting regular verbal tellings spouse/partner, or to your endocrinologist or GP (MD). will be understood by all – Despite the serious nature of this condition, I have tried to maintain off for grammar and 6 of the If you are a healthcare professional; counsellor; anyone who or for that matter desired or belt for spelling (oh yes, a degree of humour within the writing and graphically with a required by all. But there Human Rights and litigation works with children or young adults etc., you have permission to sprinkling of cartoons. With such a lot of information to take in, it should be sufficient to help would have a field-day copy pdfs or pages for yourself and colleagues. nowadays); for taking ‘O’ level can be quite daunting, so I feel a comic turn here and there is no bad you understand the basics English at night-school and It is strictly forbidden to make pdfs or photocopies for commercial and point you in the right still failing; for... thing. Even for those with Klinefelter’s Syndrome, life’s not all doom well, you get the picture. use or monetary gain. and gloom! Trust me – a smile will lift your day! direction for further study. K

12 13 REFERENCES p11 CONTACTS p74 The KS Story – e not alon You are Of course, there will also be those who never tell. But it should be Prenatal Diagnosis– continue or terminate? Who should read remembered that none of us have any say in how our blueprint creates A child with Klinefelter’s this book? us. So why should anyone suffer for a condition over which they have no Syndrome deserves a fair chance control? at life; to be able to fulfil their ambitions and to contribute to There are six groups who hopefully will benefit from Within the research statistics and complex medical data lies the world around them. reading and using this book. someone’s child. Above all else, don’t they deserve the same love and KS creates vastly different traits support as any person? Klinefelter’s Syndrome, though genetic, is not and symptoms, even within the One Typical kids can seem unwilling to listen and learn and to hereditary, so can’t be predetermined, but if something doesn’t seem same karyotype. Medically, some parents1 may be seen as simply bone idle. But in some the cause is do suffer, some have mind right, perhaps for an older couple trying for a family, or to parents genetic and is not a fault of the child. implications, while many have no worried about their son, knowing some of the KS symptoms might just be symptoms at all and can go beneficial. through life unaware that they Everyone’s situation is different and sometimes due to embarrassment have KS, only finding out if they or a lack of knowledge, there may be an unwillingness by some parents Four I have tremendous respect for the work all medical personnel have infertility tests or another to offer sex education and advice to their children; leaving it primarily in do. All of us know the pressures that our local frontline doctors and linked condition. (See p22 & 58). 1 the hands of schools and peer groups. It then becomes doubly difficult medical4 staff are under. It must be hard enough keeping up with all the YAccording to one study in 2000 for both sides to communicate about the symptoms and feelings of there were some obstetric units usual diseases and conditions, and while I’m sure a good number of that had no established protocols typical teenagers—never mind those with Klinefelter’s Syndrome (KS). consultants and GPs know about Klinefelter’sY Syndrome, because of the for health professionals on how With the result that those individuals with KS can go through their complex nature of KS, (from experience), I have come across many parents Yshould be told about X prenatal diagnosis. There were adolescence and early adulthood feeling alone and confused; not hospital staff, including those working in associated fields, who had Yalso some obstetric staff who knowing who to turn to for support. never heard of it, or neededX ‘reminding’ of some ofXXX the finer points. knew very little about theY effects This guide is primarily offered to those individuals who exhibit some X of sex chromosome anomalies Five This book may also be useful toX family planning counsellors, and when first informed, some of the KS traits shown on page 22, but who are perhaps too shy to X teachers, nursery staff and other people• involved with childrenX and young parents were given misleading express their concerns and feelings to parents, spouse/partner, or to adults. And of course to anyone interested in understanding this information. Of course this 5 • situation may have changed since their GP. From experience, being a generally shy child and teenager, I was “common genetic condition” inY males. 2000 – but I can’t stress enough unwilling to share my sexual feelings and physical lackings with anyone, Y how vital it is that you should particularly to my parents, and certainly not to a family doctor. But then Six 48,XXXY; 49,XXXXY; mosaics... With such a complex NOT consider termination until attitudes change with the generations; today’s parents are far more condition, within this guide I generally treat Klinefelter’s Syndrome as a you have talked to a specialist XX genetic counsellor and ideally whole entity. That said, I do highlight 47,XXY, being the one that most open-minded and knowledgeable of some genetic conditions and GPs 6 XX/Xa Klinefelter’sY Syndrome support too are much more approachable. people seemX to mention and the one which is perhaps the• easiest to group; who can give you advice, explain how it occurs. support and firsthand knowledge Two Following on closely to the latter are those individuals who Y of growing up with this condition. Many of the karyotypes that until very recently were considered part have just been diagnosed with Klinefelter’s Syndrome and are interested XXXX XXAt the end of the day, having in knowing2 more about their condition. of the KS ‘family’ are now seen as syndromesX in their own right. The knowledgeable parents who can Further StudyXchapter (p70) will help you find specific information and love, encourage and support their It is often the case that if you know that there are others out there support for your particular karyotype, or offer contacts who may be able child through the difficult years with the same condition; who have gone through the same experiences of life;Y such as puberty and to direct you. It also includes a range of linked and sex-determining adolescence, will make a as yourself, it somehow eases the loneliness. And when you discover conditions. Xdifference beyond measure. that these people are willing to listen to you and offer support and 1 XY/X Abramsky, L. et al. (2000). Interestingly, Triple X Syndrome, karyotype: 47,XXX (often called the guidance; and these are individuals with KS, as well as parents of KS XY/X X What parents are told after “Klinefelter’s Syndrome children, it can really lift your spirits. female version of KS) which is also a result of nondisjunction (see p17); prenatal diagnosis of sex is a highly variable 47,XYY Syndrome and Klinefelter’s Syndrome are often grouped together chromosome abnormality: interview & questionnaire study. condition and although Three Those with KS will have their own set of circumstances within research studies. (Please see Karyotypes p23 and Further Study regarding the ‘telling’ of their physical differences and emotions. North Thames Perinatal Health some people are 3 for more information). Unit, Imperial College of Science, The third group who should benefit from reading this book are Technology & Medicine, Harrow seriously affected others And finally and Psychology & Genetics therefore the parents, family members spouse or partner of individuals may have mild If you take only one piece of advice from this book – make it a visit to Research Group, Guy’s, King’s College and St Thomas’s Hospital SR with KS. Hopefully it will help them to understand a little better what’s your family doctor, or to an endocrinologist. Why? See p61. implications.” going on in the mind and body of their loved ones. K School of Medicine, London.

14 15 REFERENCES p11 CONTACTS p74 The KS Story – e not alon You are In some cases the X and Y chromosomes or the two X Nondisjunction H What is chromosomes fail to pair and exchange genetic material, resulting IN OVUM CELL FORMATION Endocrinology Klinefelter’s Syndrome? in them moving independently to the same cell; producing a Parent’s Genotype: HORMONES The basics sperm with both an X and Y chromosome or an ovum with two Xs. XX XY This is called ‘Nondisjunction.’ (See table to right). XXO XY AG The Gametes Every human adult contains more than one hundred million When a sperm with an X and Y chromosome fertilises an ovum Possible Male Gametes TC million cells (each averaging one hundredth of a millimetre in with a single X chromosome, or a typical sperm with a Y X Y Genetics diameter). The cells vary enormously in shape and size depending chromosome fertilises an ovum with two Xs, an XXY child is XX XXX XXY on their job within the body, e.g. muscle, nerve, organ, blood etc. conceived. So instead of 46,XY a male with Klinefelter’s Syndrome Triple X Klinefelter’s Syndrome Syndrome has 47,XXY. (See diagram on p41). However, they all have the same basic content (see cell O XO YO diagram on p40). Within the wall of the cell is the cytoplasm, a Turner’s Will not An extra X can also occur in females – 47,XXX (‘Triple X Syndrome survive* Possible Female Gametes jelly-like substance and embedded in this is the nucleus. Think of Syndrome’), or an extra Y in boys (i.e. 47,XYY). Additional Xs and * A Zygote would die without the the cytoplasm as the factory floor, producing products for the Ys and combinations of the two can also occur. (See karyotype vital genes within an X chromosome body, and the components of the nucleus as the managers; table on p23 and Human Reproduction on p42). IN SPERM CELL FORMATION issuing instructions to the workforce. Parent’s Genotype: M1 Klinefelter’s Syndrome (karyotype: 47,XXY) is classed as a XX XY The process of Meiosis is quite The blueprints relating to specific products are stored within “common genetic condition” in males. A study in 2007 now XX XYO involved to include within this the nucleus in a chemical form (or code), called Deoxyribonucleic shows KS at 1.72 per 1000 male infants (previously 1.3).M2 The Gametes book. However, if you are Possible Male Gametes interested in understanding it’s Acid (DNA). Organised into groups along a ladder-shaped It has also been shown that there are 400-500 live male KS XY O function, I suggest that you take structure, it makes up the majority of each chromosome (see p41). out an illustrated children’s book births in Britain each year, “though many will not be recognised X XXY XO on higher human biology, from The total blueprint to create a typical human are stored on 46 until adulthood.”SR Klinefelter’s Turner’s Syndrome Syndrome your local library. (From such chromosomes, arranged in 23 pairs, in each cell of the body. experience, school books are As mentioned previously, because of the variable nature of KS, X XXY XO technically easier to understand). Klinefelter’s Turner’s A typical female and male have 46 chromosomes; 23 maternal some individuals may go through life blissfully unaware of their Syndrome Syndrome Meiosis description and 23 paternal (paired), with the last pair (X and Y) determining condition, others may suffer in silence; never knowing why they Possible Female Gametes This information was obtained on: Above: w: www.medicinenet.com/ the sex of the individual, written as: 46,XX and 46,XY respectively. are that way, or to frightened to seek help. Many only find out Adapted from Teach Yourself they have KS if they have medical tests; such as for infertility or Genetics by Morton Jenkins. That text was in turn based on What causes Klinefelter’s Syndrome? Copyright © 28.01.2005 information from NICHD associated conditions such as osteoporosis. In life variations happen and sometimes an egg cell (ovum) or Morton Jenkins. Published by (part of NIH), Dr Robinson, A. Hodder and Stoughton Limited / University of Colorado, USA. sperm cell (spermatozoon) develops which carries one or more It is preconceived by many parents that their son is gay, Edward Arnold (Publishers) extra X chromosomes. Although the cause is currently unknown, because he is not interested in girls, when often it is shyness and Limited / Hodder Education. possible rejection. Research currently shows no more links to Reproduced by permission of it results primarily in a change occurring during meiosis; a Hodder Education / process which is undertaken by all cells destined to be sperm or homosexuality than is in the general population. Hodder & Stoughton /. ovum. In this process the 46 chromosomes in the cell divide to And finally M2 make four new cells with 23 chromosomes each.M1 Amongst other vital components, such as proteins and ATP, Prof Jacobs, P A. et al. (2007), Is the prevalence of Klinefelter’s During meiosis chromosomes pair with their corresponding chromosomes carry our DNA, which passes on hereditary traits syndrome increasing? and controls how our body is made and how it functions. Division of Human Genetics, chromosomes and exchange bits of genetic information; this is University of Southampton called ‘Crossing over.’ In males, the X and Y chromosomes pair Although classed as a ‘genetic’ condition; because of the Medical School, Wessex Regional Genetics Laboratory, Salisbury, and in females, the X chromosomes from each parent pair. After additional chromosome(s), KS itself is not an hereditary UK. the exchange the chromosomes separate and meiosis continues. condition. KS is not passed down from previous generations.

16 17 REFERENCES p11 CONTACTS p74 The KS Story – e not alon What is You are Klinefelter’s Syndrome? AG That said, although a large percentage of XXY males do not A brief history of the TC produce enough sperm to allow them to become fathers, you people behind the syndrome Genetics should not automatically assume you are infertile without further testing. There is evidence which points to a substantial number 1942 elevated levels of Gonadotrophin Releasing of XXY males having the ability to father a child. Harry Fitch Klinefelter Jr (1912-1990) Hormone (GnRH), Follicle Stimulating It should also be noted that a father with Klinefelter’s ‘Syndrome characterised by Hormone (FSH), and Lutenising Hormone Syndrome may transfer his 47,XXY karyotype to his naturally Gynaecomastia, Aspermatogenesis without (LH). These raised levels of hormones conceived offspring. If this course of action is chosen, like A-Leydigism and increased excretion of indicated that the initial problem was in the Intracytoplasmic Sperm Injection (ICSI); counselling should be Follicle Stimulating Hormone.’ testes. M4 seriously considered.M4 Whether naturally conceived or by Harry Klinefelter Jr. was born on the 20th The above titled paper was published in ICSI, there is substantial research (See the ICSI chapter p48, which also includes information on March 1912 in Baltimore, Maryland, USA. the Journal of Clinical Endocrinology & evidence to support both the specific prenatal diagnosis and screening procedures. K Metabolism (1942; 2: 615-27), by Harry F transfer of non-mosaic After premedical training at the University Klinefelter’s Syndrome from father Klinefelter, Jr., MD; Edward C Reifenstein, Jr., of Virginia, he received his medical degree to offspring and of producing a MD; Fuller Albright, MD. typical 46,XY or 46,XX birth. from the Johns Hopkins Medical School in Check out the various papers at 1937. As was customary, the senior author the NCBI/PubMed website: always came last, but the media of the day w: www.ncbi.nlm.nih.gov/pubmed In 1942, as a ‘travelling fellow’ at the KS or not KS – that is the question were already calling it ‘Klinefelter Syndrome.’ It seems that karyotype 47,XXY Harvard Medical School in Boston, he was isn’t necessarily Klinefelter’s Syndrome! allowed to move to another department; Dr Klinefelter said that, “this was really Up to now all support and research The latter quote is mentioned in a groups have acknowledged 47,XXY as paper written by Bock, R. (1993), having broken several pieces of expensive another of Dr Albright’s diseases. He Klinefelter’s Syndrome. In fact some National Institute of Child Health & laboratory equipment. He was assigned to unselfishly allowed my name to come first on include XXYY & XXXY to XXXXY. Human Development (NICHD). follow patients at the famous ‘Saturday the list of authors.” Now there are some people in the USA The paper (13 pages long), does offer a morning clinic’ at the Massachusetts General that have proposed to call the most good deal of useful information on KS, Following his time with Prof Albright, common karyotype (47,XXY) however, it is written for an American Hospital, under the direction of Dr Fuller Dr Klinefelter served 3 years in the US army ‘Klinefelter Disease’ and all the other reader. Albright, ‘the father of [American] variants: ‘Klinefelter Syndrome.’ during WW2, advancing from First Lieutenant It also mentions that there is very little endocrinology research.’ However, other scientists including information on adults with KS. Perhaps to Major. He then returned to private DID YOU KNOW? Prof M Diamond, (John A Burns School that was true in ‘93, but not now. You Shortly after commencing his studies he practice and a member of the faculty at Johns ICD-10: Q98 of Medicine, University of Hawaii) will find many papers on the American strongly discourage the use of the word NCBI website: WORLD HEALTH saw a man with enlarged breasts Hopkins University, becoming Associate ‘disease’ as “it just adds to the stigma.” w: www.ncbi.nlm.nih.gov/pubmed ORGANISATION (gynaecomastia), and small testes. Professor of Medicine in 1965. International Statistical According to a Canadian KS website, if I suggest that you read other papers in Classification of Diseases, an individual has been diagnosed with conjunction with this one to obtain a Dr Klinefelter was very interested in this He devoted the rest of his life to studying 10th Revision (2007). an additional X chromosome, but balanced view. case, and as Dr Albright had seen similar alcoholism, endocrinology and clinical exhibits none of the symptoms, then The above relates to the USA and so Klinefelter’s Syndrome and they do not have Klinefelter Syndrome. cases in the past, but was unsure of the research in rheumatology, retiring in 1988 at other male chromosome far all UK support and research sources conditions cover: Q98.0-9. “I never refer to newborn babies as continue to call 47,XXY Klinefelter’s cause, he asked Dr Klinefelter to set up a the age of 76. He died in 1990. having Klinefelter’s, because they do Syndrome. KS examples: study of this man and other similar cases. not have the syndrome.” Professor Fuller Albright... 47,XXY karyotype: Q98.0 (Please see table on p23 for additional Additional Xs: Q98.1 Dr Robinson, A. MD, Paediatrician, karyotype information). During his research, Dr Klinefelter found Male 46,XX karyotype: Q98.2 University of Colorado Medical School, that these individuals were very tall, had Unspecified: Q98.4 USA, and the director of the Mosaicism: Q98.7. NICHD-sponsored study into 47,XXY. small hard testes, were infertile and had

18 19 REFERENCES p11 CONTACTS p74 The KS Story – e not alon What is You are Klinefelter’s Syndrome? Fuller Albright (1900-1969) the cells of the nervous system. 1959 Nature (1959; 183: 302-03), (as title), by Fuller Albright graduated from Harvard Patricia A Jacobs OBE (1934-) Patricia A Jacobs and Dr J A Strong. Dr Jacobs While examining the sample brain cells Medical School in 1924. In the late 20s he ‘A case of human intersexuality having a was 24. (neurons) of their animal specimens, they worked with Dr Ellsworth at Johns Hopkins possible sex-determining mechanism.’ discovered dark blotches, which looked like a 1959 continued to be an outstanding year University, before moving to Berlin to work drumstick. It was later discovered that the Professor Patricia A Jacobs’ first exposure to with the published work of J Lejeune et al., of with Dr Zondek, mostly in pituitary gland marks were ‘clumps’ of chromatin. cytogenetics was in 1955, and except for a an additional chromosome 21 (Down’s research. brief time studying the Praying Mantis and a Syndrome), and C E Ford et al., regarding the More surprising, was that when Bertam’s On returning to the States he set up a goat-sheep hybrid; called a ‘Greep’, she has chromatin-negative female; karyotype 45,X detailed notes were examined they kidney stone clinic, and an endocrinology spent her entire career in the study of the (Turner’s Syndrome). That year Dr Jacobs discovered that all the marks came from clinic at the Massachusetts General Hospital, human chromosome. also described the first female with a 47,XXX females. karyotype. And in 1964 karyotype 48,XXYY specialising in ovarian dysfunction. In 1957 Dr Jacobs was appointed to the was described. In 1949 they published their work in a scientific staff of the newly created Medical Dr Albright discovered many mechanisms magazine publication of the Royal Canadian Research Council’s group in Edinburgh, by In 1965, following a controversial period of endocrine diseases; mostly in calcium Air Force (their funding partners), on the sex the director Michael Court Brown, for regarding studies of XYY patients, both in the metabolism. chromatin, which later became known as research into general effects of radiation; to UK and US, Dr Jacobs left Edinburgh to be He developed Parkinson’s Disease around ‘Bertram & Barr Bodies’ or just ‘Barr Bodies’. study the chromosomes of leukemic cells. with her American husband and to start a 1946 and although he continued to work, in new chapter in her life; taking up an In 1951 Dr Barr became Professor of Dr Jacobs spent 4 months at Harwell and appointment at the newly established John A his last years each month a medical student Oxford learning techniques of mammalian Anatomy. Burns School of Medicine, in the Department was assigned to him, to take him around the cytogenetics and culturing human bone of Anatomy & Reproductive Biology, in hospital and to learn from him. The Klinefelter’s Syndrome connection marrow, from Dr Charles Ford and Dr Lazlo came in 1956. Buccal smear tests of men Honolulu, Hawaii, studying spontaneous He died in 1969 following a neurosurgical Lajtha respectively. with Congenital Testicular abortions linked to chromosome attempt to correct the M1 Hypoplasia were reported as With few leukemic patients back in abnormalities, employing the previously Parkinson’s Disease in 1956. The aforementioned text was having a positive X-chromatin Edinburgh, in 1958, fired up with enthusiasm unused, and more precise banding techniques. based on information written by Dr Jacobs looked for ways to use her newly 1949 Haché D, which was supplied to Barr Body. Back in Britain, Prof Patricia Jacobs was acquired skills for examining human M L Barr (1908-1995) the support group Klinefelter made a Fellow of the Royal Society in 1993 Syndrome and Associates, USA. Under typical circumstances, chromosomes. It was then that she was Murray L Barr was born in and was awarded the OBE in 1999. The original Bertram & Barr paper if an individual has an XX offered a marrow sample from Dr John Belmont, Ontario, Canada. He was published in a Royal karyotype, one X is put to work Strong, a local endocrinologist. The sample She continues to work with her beloved gained his BA in 1930 and MD Canadian Air Force magazine. while the other is put aside as a was from a chromatin-positive man with chromosomes and with the same enthusiasm in 1933 from the University of Additional information from: clump of chromatin. A woman Klinefelter’s Syndrome, and in for cytogenetics as she had Amory, John K. et al. (2000, p356: Western Ontario. M2 M2 333-35), Klinefelter’s syndrome, therefore has a positive 1959, with the technical back in the late 50s. The aforementioned text was The Lancet, supplied by assistance of Miss Muriel After working as a GP for X-chromatin, or Barr Body, kindly supplied by Prof PA Jacobs. These are just some of the two years, he returned to the Dr S G Ratcliffe. while a man; who typically has Brunton, went on to describe Personal text is based on reprints people who pioneered her first sex-chromosome Anatomy Department, specialising in an XY karyotype, does not. from Nature, Vol. 183, pp 302 & cytogenetics in the 20th Neurology. abnormality in humans. 303, Jan 31 1959 and Prof Jacobs’ Therefore, the conclusion was, to theorise, speech, William Allan Memorial Century, and the story After the Second World War Dr Barr that there was an extra X chromosome Immediately recognising Award, from the American Society continues today, with new of Human Genetics, in 1982. returned to the same university were in 1949 present in individuals that exhibited the the importance of their advances in the understanding he and a graduate student, Ewart G Bertram symptoms of Klinefelter’s Syndrome.M1 observations Dr Court Brown of human chromosomes and began a study into the process of fatigue in encouraged Dr Jacobs to publish a note in their function and effect within the body. K

20 21 REFERENCES p11 CONTACTS p74 The KS Story – e not alon What is You are Klinefelter’s Syndrome?

Symptom n. Typical Male: 46,XY. an indication of a disease or KS Traits & Symptoms Karyotypes Typical Female: 46,XX disorder noticed by the patient. Klinefelter’s Syndrome is a variable condition. Trait n. Figures taken from various respected UK and International sources typical, distinctive, characteristic Some people are seriously affected, while (Approximate rate per 1000. Example: 47,XXY has 1.72 live births per thousand) feature or quality. others have mild symptoms. Klinefelter’s Syndrome Triple X Syndrome Mosaics 47,XXY (1.72)M1 47,XXX 46,XX/47,XX,del(Y)(q11) Behavioural & Personality traits seen more in individuals with 48,XXXY* XYY Syndrome 46,XX/46,XY Klinefelter’s Syndrome (KS): 48,XXYY* 47,XYY (1.00)M2 Turner’s Syndrome 49,XXXXY* M3 • Concentration difficulties • Lack of self-confidence 47,XYY,q+ • 47,XYY,16qh+ 45,X (0.2) 49,XXXYY* 48,XYYY • Delayed speech development • Low self-esteem Mosaics 45,X/46,XX 50,XXXYY* Mosaics 46,XY/47,XYY • Emotional immaturity • Lowered endurance 45,X/46,XY (Male) • Impaired gross motor coordination in • Lowered IQ, particularly verbal Mosaics Other Karyotypes 45,X/47,XXX 46,XY/47,XXY /M3/M6 45,X/46,X,r(X) early childhood • Lowered level of attention 46,XX (Male) (1.87)* 46,XX/47,XXY 47,XXX (Male) M4 45,X/46,X,i(Xq)/ • Impaired memory, particularly • Lowered vigour and drive 46,XY/48,XXXY* 47,XXY (Female) **/M5 47,X,i(Xq),i(Xq) short-term • Mood swings 47,XXY/49,XXXXY* 48,XXXX • 49,XXXXX 45,X,inv(q)/46,XX,inv(q) • Increased dependency • Passivity • Increased frequency of speech • Poor auditory discrimination del = deletion i = inversion p = short arm of chromosome q = long arm of chromosome. r = a ring chromosome This table shows only a sample of the karyotypes which I have found to date. Be aware that some lesser known support disorders • Poor contact ability and loneliness websites can show correct karyotypes, but incorrectly written, while other karyotypes are definitely iffy or just plain • Lack of self-assertion in early • Preference for quiet games wrong. Please contact a respected support group for general karyotype information. For information of your own karyotype you should talk to your GP or an endocrinologist. In the UK the latter are referred through a GP only. childhood • Shyness & reticence * Karyotype information will vary depending on the country of origin or the organisation. For example, over the last few years there has been a shift in opinion regarding the rarer KS karyotypes (e.g. 48,XXXY; 48,XXYY; 49,XXXXY). With their own distinct phenotype and clinical presentation an increasing number of endocrinology, research and support PLEASE NOTE: organisations now view them as separate sex chromosome variations, in the USA some have their own support groups. The information on this page has Psychological & Physiological symptoms While this opinion exists in many countries, including the UK, there are other organisations and individuals worldwide been obtained from various who continue to view the rarer karyotypes as Klinefelter’s Syndrome and continue to support them, though some KS groups may recommend a more appropriate support organisation for the very rare karyotypes. support and research groups and seen more in individuals with KS: from various countries. • Autoimmune conditions • Possible gender dysphoria * 46,XX Male (De La Chapelle Syndrome) M1 Please remember that one KS • Disproportionately long • Possible oestrogen Prof Jacobs, P A. et al. (2007), individual will be very different legs, compared to body production with or in place Sometimes at early egg formation the SRY genes (Sex determining Is the prevalence of Klinefelter’s from another. These are possible Region of the Y chromosome) attach themselves to an X syndrome increasing? Division of associated conditions only. • Increased need for sleep of testosterone Human Genetics, University of • Lack of facial and body (Caused by ovotestis chromosome, creating an XX male. 46,XX Males have a similar Southampton Medical School, Some people will have a lot of phenotype to 47,XXY (KS) but there is no increase in height as Wessex Regional Genetics these traits and symptoms, some hair at puberty ie. ovary and testis in one Laboratory, Salisbury, UK. very little, while others will have • Low or no testosterone or separate organs) appears with the latter. M2 Prof Jacobs, P A. no perception of them at all — production • Possible osteoporosis in ** 47,XXY Female M3 even those who have the same • Poor muscle tone later life Intersex Society of North America karyotype. There has been a case in Germany of an SRY-negative 47,XXY (ISNA), paper supplied by • Possible breast tissue • Small hard testes woman, with a son and two daughters (one daughter also has the The Gender Trust. It should therefore be noted that (Gynaecomastia) • Small penis 47,XXY karyotype). M4 a person with KS will not fit neatly at puberty • Sterility* Borghi, A. et al. (1980; 3(2): 163-8 into any particular pigeon-hole or M7 Endocrinol Invest. Found on NCBI exhibit a specific phenotype. Mosaic In a Mosaic person different cells have different sex chromosomes; (Entrez PubMed) website USA. “Stereotyping those who have KS * Sperm analysis is required e.g. Laron, Z. et al. M5 into homogeneous profiles before infertility is predicted, as (1982; 8(2): 149-51 ie. 46,XY/47,XXY has typical male sex chromosomes in one cell Rottger, S. et al. (2001), Germany. MD should be resisted.” there have been documented cases Paternity in Klinefelter’s Syndrome but in another, KS chromosomes. There are some extremely Found on NCBI/MedlinePlus. of paternity. – a case report. Arch Androl. M6/M7 complex mosaic karyotypes, such as 45,X/46,X,i(Xq)/47,X,i(Xq),i(Xq), Explained by Dr Ratcliffe, SG. (i.e. Turner’s Syndrome/typical female/Triple X Syndrome). K Consultant Paediatrician Retired).

22 23 REFERENCES p11 CONTACTS p74 The KS Story – e not alon You are Additionally, testosterone should only be used by males, H Endocrinology as masculising will result in women, with changes in Endocrinology Hormone replacement therapy menstrual cycles. It will also seriously affect the HORMONES foetus of pregnant women. At your first endocrine appointment you will be examined and the consultant will discuss your particular treatment. Everyone will I have included here support group M1/M2 be different in how they are looked after. reports on each item’s effectiveness, including my own experiences (italics), but at the end The consultant will probably suggest that you obtain a density of the day everyone is different and will experience differing scan, to evaluate the condition of your bones. The DEXA scan is a results. In discussion with your consultant, it’s up to you to simple, non-invasive procedure, similar to a film-producing x-ray, find what suits you best. i.e. no tunnels, and you even get to laze for 15 minutes while it checks you out! Check out the KSA and KO support group websites, in the UK and KS support groups in your own country, for a Following that, you may be placed on an osteoporosis therapy full list of products and information relating to each. to boost your bone density. This consists of a course of tablets, taken daily for a minimum of three years, possibly indefinitely. Gel: This method is set to revolutionise the way some people However, as it becomes part of your daily routine you will not find take testosterone and one which will delight many it a chore. The tablets periodically stop bone breakdown, as well who miss treatment, or have never begun it, perhaps as increase your calcium intake. You may be offered some other because they dislike the needle. treatment. Supplied in a pump canister, sachets or a tube, the Next comes the hormone replacement therapy. There are gel is rubbed into the skin of the upper arm or belly, waiting a few several ways to administer the treatment nowadays, and your GP minutes until absorbed before dressing. or endocrinologist will advise you on this, as some will not be Important information to remember: suitable for everyone. • wash hands thoroughly with soap and water after applying Please note. The following therapies should only be taken the gel as it can be transferred to others. Development is ongoing and • if having sexual intercourse within a few hours of applying there are new products with a diagnosis and support from your endocrinologist or doctor, appearing, so check with your who will be able to offer you more details and suitability for these the gel, then you are advised to wear a t-shirt, to protect your GP, endocrinology consultant partner. or a KS support group for up to and newer methods of treatment. For instance, some products date product information. have not been tested on males less than 18, or limited testing on SG report: Because it is so new there is little feedback on use. Methods shown here are older males (e.g. 65 upwards). Like patches the gel may cause aggravation to your skin.M2 relevant to the UK, so may not M1 Support Group (SG) report be available in your own Additionally, some therapy products are only licensed for Based on information from the country. Implant: This consists of a visit to an out-patients clinic every 6 certain countries. Klinefelter’s Syndrome Take a look at product months, for this gradual release alternative. If you prefer this Association website. information at the USA website: option talk to your consultant who will give you all the facts. w: www.ksa-uk.co.uk w: www.medicinenet.com There are other serious health issues to consider before (See p74 for contact details). treatment begins, which will be outlined to you by your GP (MD) There is also product information SG report: one person reported that the implant forced its way M2 Support Group report to be found on some of the major or endocrinologist. You also have to ‘work’ with your healthcare back out, causing round scars.M2 Based on information from the pharmaceutical company Klinefelter Organisation websites. Just type the product professional; keeping them informed of initial and later side w: www.klinefelter.org.uk name into your search engine. effects. Contd. (See p74 for contact details).

24 25 REFERENCES p11 CONTACTS p74 Endocrinology

M3 Injections: There are now two versions of the deep intramuscular I tried them a few years ago to see if there was a better Injections are supplied in the DID YOU KNOW? form of Testosterone ‘salts’ injection. The original jab with an application varying from three hormone balance. The spread was good with no recognisable 40,000 + (100mg or 250mg), each being absorbed at a different rate weeks to monthly (though it can be more often), and a newer one peaks, however there are few places to position the patches and if Taking an upper age of 80 and throughout the month. just taken every three months (10-14 weeks). you get them on a hairy site – well you know what it’s like the current estimated annual rate of 400-500 live births The way testosterone treatment removing a sticky plaster where there are hairs — imagine a three which have a 47,XXY Sometimes known as a depot injection, the drug itself is works was described to me as a inch square plaster! karyotype, and you have a series of overlapping bells; with injected into your rump (upper buttocks) and forms a reservoir of potential 36-40,000 each slow-release salt smoothly In my case hairless days are over, 13 years of male HRT have individuals with this condition. linking into the next. testosterone, which will be absorbed over the stated application seen to that, so I found I was placing them back on the same Add to that, the other rarer period. Injections can be given by your GP or practice nurse to However, in many cases, place, with resulting irritation to my eczema. Also the patch was Sex Chromosome Variations, including myself, it seems that ensure you don’t forget your dosage. It takes only seconds and including mosaics and Triple X the release is either not smooth made of crackly plastic that drove me nuts; like sleeping on a Syndrome, plus loved ones, or one or more of the salts are you’re done. Some GPs offer self injection, while other people healthcare professionals and causing additional reaction in packet of crisps! And so after 3 weeks of perseverance I gleefully those working with children & some people. prefer the professional touch. returned to the injections! Y young adults and there is a In the highest dose (250mg), Trust me— The needles are so sharp nowadays that most sizable population who could there are four salts (active That said, if you are new to replacement therapy; and are clear benefit from reading and ingredients), which your body times I feel only a little pressure on my rump. Sometimes not Y utilising this book. converts into testosterone: of hair, give them a try. Y even that. Occasionally there is a wee nip, and I mean a wee And that’s just in the UK! Testosterone propionate X Testosterone phenylpropionate nip... LOOK, IF A WIMP LIKE ME CAN DO IT, ANYONE CAN! Tablet: You will have to remember to take them as prescribed. Y Testosterone isocaproate XXX Again, this type of therapyX may not have been tested with Y Testosterone decanoate There are mixed reports on the monthly/three week children. X X distribution. Some groups report good results, while others find • X X horrendous libido peaks. SG report: some people have felt a little depressed• as the dose wears off.M1 Y For the first few years after commencing hormone treatment I Y DID YOU KNOW? generally found a strong peak about a week after the jab; which Tablet (buccal sustained release): A very small tablet-like Although testosterone is secreted in very small resulted in about 7-14 days of hyperactivity (if you get my drift); product is placedXX between your gum and lip, just above one of quantities, its affect on the when the least stimulus set me off...M3 your upper front teeth, which then becomes gel-like andXX/X sticks to Y body is profound and long X • lasting. Then for about a year it very slowly began to level out. 13 the surrounding tissue. It’s called a ‘buccal sustained release At the onset of hormone system’, as once placed, the tablet graduallyY releases years on, throughout the entire month I drift through a kind of replacement therapy, it is XX testosterone whichXXXX is absorbed directly into your bloodstream. vitally important that you, at generalised medium-grade haze of sexual awareness. Perhaps X least, consider counselling. my brain has got used to the hormone, or perhaps I’ve finally So don’t chewX or swallow the tablet. One common remark from departed my second puberty, ready to responsibly face society – Dosage is twice daily (12 hours apart). You will need to Y individuals taking male HRT is the problem of peaks again! periodically check to make sure the tablet is still in place, such asX within their prescribed after eating, brushing your teeth or usingXY/X a mouthwash. absorption period, which Patch: This is a transdermal drug delivery system, which you will X can be quite disruptive for XY/X have to replace daily. It comes in various dose strengths. Higher several days – or more. There are a number of side effects with this method of Even the introduction of body weight can also affect daily dose. application, so let your GP know if you experience anything male-pattern hair can cause unusual. K distress to some individuals; This therapy may not have been tested with children. Discuss particularly if they have other options with your doctor or endocrinologist. been without body hair, or have had plenty scalp hair for SG report: Complications usually take the form of skin most of their life. reactions and difficulty sleeping with the rustling noise it makes.M1

26 27 REFERENCES p11 CONTACTS p74 The KS Story – e not alon Endocrinology You are The Feed-back Hormones – The Endocrine glands The Feed-back loop Response in the chemical messengers Adrenal gland: Situated on top of each kidney and produces the (See opposite margin) testosterone & hormone adrenaline. This prepares the body for ‘fight or flight’ by Hypothalamus produces raising blood pressure; increasing heart-beat and breathing rates; Gonadotrophin Releasing spermatozoa There are two types of gland within the body. Endocrine glands, increases the amount of glucose released from the liver and increases Hormone (GnRH). (Target gland: production which produce (secrete) substances directly into the bloodstream, pituitary gland). the amount of blood to the muscles and reducing the amount to the gut. In response to GnRH which then transports them around the body to ‘target Pancreas: Situated below the stomach, one part produces digestive stimulation the pituitary gland glands’. These are called ‘Ductless Glands.’ juices, while the ‘Islets of Langerhans cells’ produce the hormones produces Luitenising Hormone The Brain (LH); for testosterone production, glucagon, somatostatin and insulin, the latter of which increases the Hypothalamus The other type is the Exocrine gland: which employs and Follicle Stimulating Hormone Pituitary ducts to direct their products into the area where they rate that the liver releases glucose into the blood; enabling cells to (FSH); for sperm production. absorb glucose and stimulates the body to change glucose into fat. Testicles contain the Leydig are required, (i.e. salivary glands). If too little insulin is produced the liver releases too much glucose, cells which produce testosterone and the seminiferous tubules causing the condition ‘sugar diabetes’ (Diabetes Mellitus - type 1 & 2). But for this chapter, and for your understanding which produce spermatozoa (hopefully) of Klinefelter’s Syndrome it is the secretions This causes the glucose in the blood to increase to a dangerous level. Y(sperm). Parathyroid gland: Four small glands embedded within the thyroid. The level of testosterone is of the Endocrine System that are important here. controlled by the feed-back loop. Parathyroids are sensitive to calcium levelsY in the blood. If there is too The Pituitary gland and The latter secretions are called ‘Hormones’, and can be little, the gland releases the hormoneX parathormone which increases HypothalamusY monitor the thought of as chemical messengers; sending instructions calcium absorption in the intestine; withdraws calcium from the bones amount of testosterone in the Yblood and control how much is all around the body. and increases re-absorption of calcium by the kidneyXXX tubules. X produced; by regulatingY their own Pituitary gland: Produces hormones which control growth. Other X hormones. The Testes Hormones are produced in minute quantities yet their X hormones cause the ovaries to release• ova (eggs); testes to produce X effect on the body can be profound and sometimes long spermatozoa (sperm); the uterus to contract and expel the• fetusX at lasting. birth; and the mammary glandsY (breasts) to produce milk. Other hormones control the amount of water in urine and the activities of A few endocrine glands control themselves, but the Y other endocrine glands. majority are controlled by the Pituitary gland; which for Placenta: Apart from its main function within the uterus this organ also this reason is called the ‘Master Gland’ of the endocrine XX acts as an endocrine gland secreting Progesterone, oestrogenXX/X and Y system. This pea-sized body is located in a bony cavity ChorionicX Gonadotrophin, which regulates the maintenance• of at the base of the skull, just under the Hypothalamus to pregnancy. which it is connected. Y Thyroid gland: Situated in the neck in front of the trachea (wind-pipe).XX It produces the hormoneXXXX thyroxine, which has a major influence on the The pituitary gland can regulate the production of X hormones within a particular target gland (TG), by mental and physicalX development after birth, by controlling the rate of chemical reactions in all body cells. producing a ‘Stimulating Hormone.’ These stimulating Y Two organs situated in the lower abdomen, below each kidney. hormones are regulated by specific ‘Releasing Hormone’ which is Ovaries: The Stimulate They produce ova (eggs). The ovaries also produce the hormone calledX Feed-back Feed-back produced in the Hypothalamus. Oestrogen which controls the development of female secondary sexual loop control XY/X The stimulating hormone ‘tells’ the TG to produce its particular characteristics XY/X(breasts, soft skin, female voice); prepares the uterusX hormone. If too much hormone is produced it sets up a ‘negative (womb) to receive a fertilised ovum; stimulates the uterus to protect and nourish a developing baby. DID YOU KNOW? feed-back response’ to the pituitary gland, which produces less of C19, H28, O2 is the element the stimulating hormone, and so the TG produces less of its Testes: Two organs situated in the groin within the scrotum and formula for the principal male produce spermatozoa (sperm). The testes also produce the hormone androgen; testosterone, hormone. while – C18, H24,O2 is the Testosterone which controls the development of male secondary sexual formula for the principal Several glands are controlled in this way, including the testes. characteristics (coarse skin, deeper voice and more body hair than in oestrogen; oestradiol. females). How close we are. (See diagram). K

28 29 REFERENCES p11 CONTACTS p74 The KS Story – e not alon You are A Personal Message velocity test and muscle biopsy – joy! enquiring mind of a child learning about the Unfortunately, for the first three years of world for the first time. After studying cells and chromosomes I found myself delving 1997 changed the way I viewed my life; past, means to have Klinefelter’s Syndrome. my study into Klinefelter’s Syndrome I had no access to the Internet. I would spend days in deeper; trying to understand DNA, then its present and future. It put a name to 45 years Amongst the day-to-day business and feverish letter writing, followed by weeks of components, gene replication, protein of fears and embarrassment, and to what I social struggles and treatment for the non-activity, as I awaited replies. Then in production, human reproduction, anatomy, felt but could never tell anyone about. It was crippling leg pain and allied stress, it had not 2001 I discovered that my local library offered orthopaedic surgical techniques... the year that I was diagnosed with dawned on me at that point, that my search Internet access, which transformed the way I For weeks I was obsessed with the mind- Klinefelter’s Syndrome. to piece together a clearer picture of my studied, and the staff were so helpful. blowing design and beauty of the human The punchline was somewhat lost on me condition had in fact set me on an academic Believe me, the Internet makes a humongous body – an enthusiasm that exists to this day. however, as at the time I was undergoing course unparalleled in my life, and one which difference to the speed and ease of collecting Strangely, I can remember the ‘central hospital in-patient tests to discover the cause would last well over eleven years! information. subdivision of theY bed nucleus of the stria of acute pain and weakness in the It also became clear as I progressed that Eventually, in 2002 with family support I terminalis’, but I keep forgetting to water my quadriceps of both my legs. And with still no Klinefelter’s Syndrome involved more than Y managed to purchase a secondhand plants! light on the latter problems, I certainly wasn’t just endocrinology. There were many other X computer upgrade — with a modem! It would be fair to sayY that my grammar expecting to be diagnosed with another fields involved, such as: clinical & surgical medical condition. X XXXand spelling are Yappaling and in any other medicine, genetics, gender issues, I guess there will be many individuals that Y written work it would be strongly suggested Some weeks later on leaving my first visit rheumatology, orthopaedics and neurology. on leaving the endocrine clinic for the firstX X X • that I “don’t give up the day job.” However, to the endocrine out-patient clinic, having time will be quite happy to leave it at that. You have to understand that much of my Klinefelter’sX Syndrome can affect academia just discovered that a huge chunk of my life Everyone is different - but someY (like myself) academic years were a disaster, so studying •big time, (see p22) that’s my excuse and I’m had been affected by this condition, I asked a will want to know more and that is the was going to create its own degree of Y sticking to it! Correcting my scribbles has junior doctor if there was any printed primary reason for this book. challenge. But here I had a quest for XX probably only taken the edge off the worst information on Klinefelter’s Syndrome. He In my own case, I don’t agree with the information; something vitally important in of it. XX/XY handed me a small pamphlet titled: my life, something that would help me adage thatX too much information turns you • Although I have been studying the many ‘Hypogonadism in Adult Men’, which to be understand my life and enable me to cope into some kind of hypochondriac. After so XXX Yfacets of Klinefelter’s Syndrome for the past honest confused me even more. more fully with my symptoms. many years in the dark and a general nature XX 12 years and sound like an expert, I’m not. I I thought to myself, call me insensitive, for trying to understandX how things work,X I As usual, my spelling and grammar went have only scratched the surface. It is the but having just been told I had Klinefelter’s found that I was drawn to discover more. But out the window and my English and medical research & support groupsY and medical Syndrome there was only ONE pamphlet again everyone is different. dictionaries became constant companions, publications with whom I have obtained available, amongst the piles of literature on Everyone will have their own set of X but it’s truly amazing what you can achieve study information who are the stars. other endocrine conditions – and what the hell XY/X when you’re interested in the subject you are circumstances regarding the ‘telling’ of their X XY/X Growing out of my own academic flaws was hypogonadism? Being my usual learning about. physical and/or emotional differences to non-confrontational self; I thanked the doctor parents, spouse/partner or to their family and subsequent frustrations in trying to find Of course, while I progressed with my and left. doctor. And of course if you have their and understand facts about my condition, my studies into KS the various medical primary objective was to compile a book It wasn’t until a few months later; when I support, study should be that much easier; specialists were beavering away trying to which would direct the reader to respected began to look into the background to KS that as you won’t be resorting to covert tactics. discover the original leg condition, with UK and international research, support and I realised the true extent of what it really I plunged into my studies with the x-rays, electromyography, a nerve induction information resources.

30 31 REFERENCES p11 CONTACTS p74 The KS Story – e not alon A Personal Message You are Obviously there are many thousands of without knowledge of KS, children may close concerned about their child, there are scenario being that at 12 years old it could be websites, papers, journals etc., which I have off their feelings to those around them, non-confrontational ways to discover whether so easy for him to casually pass on his not yet accessed, but what is important is usually because they think no one will there is an underlying reason; by seeking ‘secret’ to a pal, only for them to that with this book you now have a believe them, they may be too embarrassed, their GP’s advice. thoughtlessly pass it on to someone else, reasonable contact database to commence or perhaps just don’t know how to express It is important to look out for other traits; mistaking ‘infertility’ for a ‘sexual disorder’, your own studies. their feelings. And so throughout their life such as low self-esteem, passivity, inability to leading ultimately to possible bullying I have learnt a great deal from my own they live with their secret – or until they are concentrate... (see p22). tactics. eventually diagnosed. studies into Klinefelter’s Syndrome. It has You could also talk to other parents who So you can see the value of talking to put names to feelings and removed the fear Because I felt embarrassed about my have gone through the same thing. (Please other families and to professionals who can of uncertainty. It has taught me the value of chest proportions, since the age of about 10 see Further Study p74, for family related give you help and support. talking to and working with my GP and in the or 11 I have always worn a top of some kind support groups). Possible gender issues importance of seeking advice on endocrine when in public—even on the beach. And no I would like to sayY at this point that everyone and osteoporosis therapy. But above all, it amount of comments such as “there are far When parents know The latter family groups are of particularY is different and I talk from my own experience has shown me that I didn’t have to suffer in worse bodies out there than yours”, would value when the situation arises where a son and stress that currently medical research silence; that there are others out there just ever convince me to uncover. Stripping to X Y has been diagnosed in childhood, and it sees no direct link between KS and gender like me, specialists who are ready to help the waist felt unnatural to me; more akin to a XXXdysphoria, though to gender support groups comes to the inevitableX point when the Y Y and support. People who have KS, who female going topless than a male. parents have to decide how, or if, they Xshould there are a good many people who exhibit know what I’m going through and lift my X X From experience, at 10 years old, the tell their child the truth. • both. spirit with their honesty and compassion. thought of surgery (whether or not it was X When the truth is withheld,Y the child may However, don’t automatically assume When no one knows viable), was extremely frightening so I never • think that their parents are hiding something anything, until you get specialist advice. People see the ‘normal’ external persona of let on that I had hard lumps beneath my Y from them, though sometimes holding back Even having been diagnosed with those with KS and particularly with regard to areola, even though they were painful if XX to a later age is more preferable; for instance, Klinefelter’s Syndrome, there can still be children, adults may think that their son is prodded. XX/XY if the childX is immature. other• issues and powerful emotions which just hamming it. They don’t sense the Quite often diagnoses of Klinefelter’s Some clinicians believe that when a boy some will find hard to express – to anyone. physical and psychological maelstrom that Syndrome is made in childhood or early XXX Y is about 10 or 11 years old, parents should I am blessedXX with a loving and supportive some children might feel within. teens as a result of discovering glandular X inform them thatX they have body cells which family, yet through puberty and into Some people believe that because the tissue (gynaecomastia). are slightly different from other people, and adulthood, with no idea of KS, I was unable national diagnosis figures are so low that it Y Puberty is a period of extreme physical that is why they are attending hospital to open my feelings to them. I had physical follows that the majority of males aren’t and emotional change and stress for any clinics. Then around 12-18, more detailed differences, but XI had something else – severe enough to warrant them seeking help. child, whether or not they have KS. For some information can be given; including the XY/Xfact something so sensitive I said nothing to While there will be many who are not severe, XY/X X individuals with KS puberty can be a that he might be sterile. anyone until I was in my early fifties. from personal experience and from talking to minefield of lies, embarrassment and That said, parents know their child and at Since around puberty I have felt partially individuals and support groups it is clear that loneliness. When lumps appear; whether what age they can be told certain aspects of feminine. It’s hard to express the amount, from an early age many children with KS hide gynaecomastia or fat deposits, or a son’s the condition. So it is vitally important that but I guess it’s around 15%. their physical differences and emotions. body shape doesn’t match up to that of their their child’s emotional maturity is evaluated With the hassle of everyday life and the peers, it is unlikely they will confide in their I have had no interest in changing sex or before embarking on heavy-duty details. The trials and tribulations of all family members, parents. However, if a parent is overly gender role; that is there has never been any

32 33 REFERENCES p11 CONTACTS p74 A Personal Message confusion over being anything other than a being alone. Often not aware of what is Over the years I have learnt to reduce the As I have said, I may not be the world’s man/male and heterosexual. happening to them, they withdraw into ferocity of the outbursts; otherwise I would greatest writer, but the work is – to the best After 35 years of silence, I really needed themselves; unable to talk to family tend to destroy whatever fiddly thing I was of my ability, honest. to know about my gender issues, but I was members, spouse/partner or to their GP. trying to create or mend. So please trust me. There is someone embarrassed, unable to talk to anyone and And of course nobody around them Back in 1997, eager to commence my out there right now, waiting to hear from you, no idea who to contact for information. knows what they are going through, making studies into Klinefelter’s Syndrome, it someone with experience of Klinefelter’s Thinking that one of the endocrine assumptions – such as that they are gay; seemed then that it was a straightforward Syndrome – and the many other facets that doctors would know, I plucked up the because they are not interested in and relatively easy to reach goal. accompany this condition, who is ready to courage. Although he made a gallant effort girls/women, or a wimp because they won’t How wrong I was! listen, to offer advice, and to ease your mind. to answer my questions it was an utter participate in physical education or rough It would have been a waste to just file And if you’re too embarrassed at this stage to disaster, for he knew nothing of this subject competitive contact sports. away all the knowledge I have collated and talk to someone, go to one of the support and of course it resulted in tangible Though in general children with KS are learned over the past eleven years, and so I group websites.Y embarrassment for both of us and inner passive, there can be mood swings. This is offer it to you, in the hope that it helpsY you or Whatever you decide to do— anger towards myself for having put both of particularly true of adults, with disruptive someone close to you to understandX more please remember, e us through that cringing ordeal. outbursts, usually due to frustration. fully the complex nature of Klinefelter’s uY ar Syndrome. X XXXYoY e When I eventually contacted one of the Throughout my life I have been a t alonY gender support groups I was staggered by pussycat— to a point. Then, through •X nXo X their vast experience and understanding of building frustration I would suddenly snap, X emotions such as mine. I can’t express in totally losing the plot. Thankfully, it has Y • words how I felt that day, listening to the mostly been inanimate objects that have Y confidential contact on the phone. received my unswerving attention. XX Having studied KS for so long I became XX/XY confident enough to eventually talk to my GP X • and it was fine, not the big deal I thought it Y was going to be. And he was so supportive XXX XX and understanding I wished I had talked to X X him sooner. Y I have recently discovered that I am ‘Androgyne.’ This is different from being a XY/X X Transsexual or Transgendered person. XY/X X (See the chapter The Sex/Gender Spectrum – Terminology & Usage, ‘Androgyne’, p67). You are not alone! From talking to various support groups the Left: most widely felt emotion expressed by those AAAAAAAAAAAAAAAAAAAAAAAAAAH! with Klinefelter’s Syndrome is the feeling of One of those fiddly jobs that didn’t quite go to plan! And yes – that might be me!

34 35 REFERENCES p11 CONTACTS p74 The KS Story – e not alon You are Additions and Losses H Testicular The Symptom Story There is another element to the physical aspects of KS — that of self-examination While it is relatively easy for a Endocrinology The physical and psychological breast tissue (‘Gynaecomastia’). Again this is a point of ridicule typical male to regularly check HORMONES their testicles, it is far more

aspects of Klinefelter’s Syndrome and also happens to thousands of typical males. Figures range difficult for those with KS, as

g from 30-60% of the general population, with most cases starting often the testes are butter-bean g in size. But you should still try. g Loneliness and fear and ending during puberty. Generally, those with breast tissue Klinefelter’s Syndrome may not be life threatening, but it can Testicular self-examination is Gender have hard, often painful lumps behind the areola (the pink or primarily to help you become cause untold suffering. Many experts will tell you that with early familiar with your own anatomy brown area surrounding the nipple). and able to detect changes from diagnosis and with the appropriate treatment children and later a previous exam, such as a hard While many individuals with KS are ‘pleasantly plump’ to adolescents with Klinefelter’s Syndrome can lead a ‘normal’ life. lump (which could be obese, gynaecomastia is not caused by being over-weight, but by cancerous). On the other hand, researchers will point out that because of You are also looking for pain or glandular tissue surrounded by fat deposits; similar to a woman’sY swelling in the scrotum. (You the complex nature of Klinefelter’s Syndrome the majority of breasts and can’t be ‘cured’ by diet or exercise. The cause is should seek immediate medical Y attention if you have acute pain individuals will not be diagnosed until adulthood. So, what generally a hormone imbalance, which is why it can affect those or swelling in the scrotum). happens if you are into your 30s, 40s, or even 70s, and have gone with Klinefelter’s Syndrome. X AY missing testicle may mean it hasn’t descended properly. through your life with both the physical and psychological Some males hate theirX breasts and want themXXX removed. YEach testicle should feelY firm but symptoms, but not the diagnosis – how ‘normal’ a life is that? not rock hard and can be slightly Some tolerate them, while others growX to love them, thoughX this larger, or higherX or lower than There can be the sense of loneliness and fear associated with normally takes many years. Those• affected go through all manner the other. X The examination should be done those symptoms, when you feel you’re the only one in the world of emotions, sometimes evenY questioning whether• they are male. monthly, standing in the shower like that and there is no one to talk to. Breasts can range in size from small buds to double Ds. or bath, while the scrotal sac is Y warm and relaxed. For those in their early teens, from experience, it can turn To the individuals involved there can be severe embarrassment 1) Gently feel your scrotal sac to XX locate a testicle. school days; supposedly ‘the happiest days of your life’, into a and low self esteem, and like KS, many teenagers find itXX/X2) FirmlyY but gently roll the impossibleX to talk to their parents about it. Often the• person will testicle between the thumb and minefield of lies and deceptions, as a teenager with Klinefelter’s fingers to examine the entire Syndrome finds ways not to participate in rough competitive wear loose fitting clothesXXX to try and hide theirY lumps and will stay surface. XX3) Repeat for the other testicle. games, or change and shower for physical education. covered in public places, such as the beach. X X If you discover anything, or you As mentioned, usually gynaecomastia is temporary but in have questions or doubts, get in In sport, often it is a case of having to endure being left as a touch with your GP (MD). some cases it can persist into adulthood. If this occurs, often Y spectator, or picked last, usually in goal or a place where you Remember, early action can make a difference. don’t have major participation. And afterwards in the doctors will suggest surgery. Prior to the 80s surgery was basic; X in some cases brutal and generally disfiguring.XY/X However, the Based on information from: shower-rooms, it is common for boys of that age to compare XY/X X www.nlm.nih.gov/medlineplus/ latest procedures employ liposuction through a tiny hole to genital size, which for those with KS is an absolute no-no. remove the fat deposits. To remove any glandular tissue (the hard It is often the case that the teenager will be bullied by boys lumps), small incisions are made at the lower edge of the areola and ridiculed by the girls for being weak and will cry at the drop of to minimising the appearance of scarring. a hat, which also incurs the wrath of their peers. While many individuals will be delighted with the surgery and adjust well to having a flat chest, some males who have lived with

36 37 REFERENCES p11 CONTACTS p74 The KS Story – e not alon The Symptom Story You are M1 breasts for many years may take some time to come to terms with The paramount thing to remember is that you are not alone; Changing from female pattern hair to male can also result in the change; possibly still wary of uncovering. It is therefore there are dedicated people out there right now doing a power of loss of hair. This can be profound and in some men can suggested that adults consider either counselling or talk to a good. People with Klinefelter’s Syndrome (and other genetic and happen within two years of the support group for advice and help. hormone related conditions), including parents who have set up commencement of testosterone therapy. But everyone is different And after starting testosterone therapy, even the addition of support groups to help other families. and like the general population scalp hair loss is variable. body hair can be upsetting to some men. Having spent many These are people who have gone through, and are still going M2 years with a few hairs spotted here and there, to be confronted through the same things as yourself, who are ready and waiting to While a large percentage of individuals with KS appear to be with great swathes of long hair on the chest, belly, groin and back listen and to give valuable support in a caring professional way. happy to be a man/male and to within a few years, can create a very negative response, resorting Whatever your age, don’t be afraid to contact them – you don’t maintain that gender role, other M1 individuals see themselves quite in some cases to covert shaving and waxing. have to suffer in silence. If you feel unable to talk to those close differently. Gender and sex issues to you, or you’re not quite ready to talk to your doctor yet, take a Y This is a highly complex subject and one which is explained in full The physical embarrassment is only part of the story as on rare note of one of the groups mentionedY in the Further Study chapter. in The Sex/Gender Spectrum – Terminology & Usage chapter, occasions the individual can also start to experience ‘feelings’ or From personal experience, it can make a huge difference to starting on p63. X a sense of being other than their outwardly perceived gender – Y your state of mind. K So, please don’t make casual that is a boy who feels partially or totally feminine.M2 This can X XXXY Y assumptions about a person based on attributes such as voice, happen from around puberty onwards. Worst of all, it creates X X appearance, etc. X anxiety, loneliness and in some cases even thoughts of suicide. • M3 X This sexologist agrees that “Gonads produce hormones that affect the brain and it’s our Y • ‘Nurture’ plays a role in the formation of our ultimate gender brains that tell us whether we’re male or female. In most cases, Y identity. there’s a physical reason why individuals might be unsure about M4 XX their sex.” MD/M3 XX/X Don’t get confused between • Y Gender Dysphoria and Sexual X Orientation; they are quite Additionally, according to research carried out in the 90s, if different. (See The Sex/Gender you have KS you are no more prone to sexual orientation changes XXX Y Spectrum chapter). XX than the general population.M4 X X Other Karyotypes Y While not wishing to detract from the grief you may be going through, like so much in life, there are always others with XY/X X different concerns. There are other more severe karyotype XY/X X conditions, with very rare cases reaching three additional X chromosomes (i.e. 49,XXXXY). There are also mosaics (e.g. 46,XY/47,XXY) and the 47,XYY and Triple X Syndromes (see Karyotypes p23) and of course other genetic and hormone related conditions.

38 39 REFERENCES p11 CONTACTS p74 The KS Story – e not alon You are AG TC Chromosomes Genetics What they are and where they are in the body 1 2 3 4 5 The Cell Perhaps the best place to start is within the cell; the basic unit of The Cell all living organisms. A human adult has a hundred million million 6 7 8 9 10 11 12 of such cells; making up the Nucleus Plasma membrane Smooth Nucleoplasm endoplasmic bones, tissue and organs of the reticulum entire body. Pores in Glycogen Left: nuclear granules Each cell is contained within 13 The 23 pairs of 14 15 16 17 18 chromosomes, with the membrane Golgi a cell membrane of lipids and Centosome apparatus last pair determining the Centrioles protein, which controls the individuals sex. Nucleolus Chromatin passage of substances in and x Fibrils 19 20 21 22 x y Lysosome out of the cell. Cells contain Rough cytoplasm, in which are 23 endoplasmic Ribosomes The last two chromosomes reticulum suspended a nucleus and other Fat droplets Lysosome structures (organelles), determine the sex of the person; XX for a typical female and M1 Mitochondria XY for a typical male.M1 A boy with Klinefelter’s Syndrome Nuclear membrane Cytoplasm specialised to carry out has one or more extra X particular activities in the cell. Each chromosome is a different part of DNA, or sequence of chromosomes; creating, in the Above: above case, a 47,XXY karyotype. The various structures within the Laying within the nucleoplasm of the cell nucleus is the the four bases. K (See also Karyotypes on p23). human cell. chromatin; the material which contains DNA (Deoxyribonucleic Acid) and protein. The substance of which chromosomes are Structure of a Chromosome made. (Diagram above, Red circle). Meiosis - reduction division (part of process). At the start of gamete cell division each The Chromosome chromosome, which consists of DNA strands, protein and ATP, shortens and thickens; by repeated coiling. At Interphase the chromosome duplicates itself, creating two The chromosome is a thread-like structure in the cell nucleus that chromatids joined by a centromere... (See Meiosis and Mitosis in a medical dictionary). carries the genetic information in the form of genes. Nucleotide DID YOU KNOW? It was the American It is composed of a long double filament of DNA coiled into a Sugar group, Centromere cytogeneticist Nettie Maria helix, with the genes arranged in a linear manner along its length, DNA Phosphate group Chromatids Stevens (1861-1912), who and a Base discovered through her together with associated proteins and ATP; for energy. fertility experiments with G A mealworms that there were The nucleus of each typical human somatic cell contains 46 P C T distinct differences between the sex and the chromosome chromosomes, 23 of which are of maternal and 23 of paternal S type of females and males, calling them ‘X and Y’. origin. The sex cells (sperm & ova = gametes) always contain half Chromosome Her work was published in the number of chromosomes of all the other cells of the body; at DNA spine Base pairs May 1905. fertilisation a sperm and ovum combine to form a cell with a S=Sugar group Thymine & Adenine Repeated coiling Based on information from P=Phosphate group Guanine & Cytosine of chromosome Net Industries, LLC and complete set of chromosomes that will develop into the embryo. Advameg Inc websites.

40 41 REFERENCES p11 CONTACTS p74 The KS Story – e not alon You are After this point the ovaries then produce oestrogens which M1 Human Reproduction Prof Dick F Swaab, Human Reproduction instructs most of the rest of the development, including assisting Netherlands Institute for The Female the development of the Mullerian ducts into the uterus, fallopian Neuroscience, Amsterdam. tubes, cervix uteri and upper part of the vagina. (See Further Study chapter for details, p76). There are four ways of recognising a baby’s sex; Embryonic Sexual orientation, sexual identity and gender expression are See also an article on Prof Swaab Genetic sex (its karyotype – e.g. 46,XY); external wired in stages throughout pregnancy. As with the sex organs, and other gender related topics, Biological sex (according to internal organs); in the New Scientist, (12th May genitalia differentiation of the female Biological sex (according to external sex organs); 2001, N0. 2290, p31), Gender. brain takes place due to a lack 1 Glans Brain sex (structures which are believed to be linked Mature Ovum Brain Sex related: 2 Urethra of testosterone during this ‘IT MAY BE YOUR BRAIN NOT to a particular sex). 1 YOUR GENITALS THAT DECIDES 3 Labioscrotum period. At fertilisation, within a Fallopian tube the chromosome type WHAT SEX YOU REALLY ARE.’ 4 Urethral grove In both females and males, 2 Full story, see New Scientist, (19th is established (Genetic sex) i.e. XX typical female; one X maternal, October 2002, No. 2365, p17). 5 Genital ridge currently at birth, social gender one X paternal. The cells of the developing zygote begin to divide 3 6 Anal pit is assigned strictly based on ‘Our brains could be hard-wired 7 Tail and within a few days implants itself within the the uterus. The to be male or female long before external genitalia. we grow testes and ovaries.’ overall term for the products of conception is an ‘embryo’. 4 At the 8th week it is known as a fetus. (See p44-45). Not quite the typical Contrary to current understanding 1 There are many ways in which of early human development From the 3rd to 7th week 6 5 (read this chapter), research the aforementioned 46,XX carried out in the USA on rodents Tissue around the developing kidneys and gonads karyotype development can be 1 Zona Pellucida 2 Nucleus back in the late 90s, showed 3 23changes into a variety of tubes and ducts; the beginnings differences between males and altered. A change in Meiosis 3 Centrosome with 2 Centrioles 5 of the internal organs of reproduction. females in the expression 4 can cause Triple X Syndrome 4 Corona radiata 5 Ooplasm (switching on) of a staggering 50 Although all the main organs of the body develop at the (47,XXX), as well as mosaics. 6 Spermatozoon genes, well before the SRY gene 6 gets a look-in. embryonic stage, the external sex organs for both males (See p23). and females start on the same basic path, that is This of course is sexual The absence of anti-male genes can alter the internal differentiation of mice, not identical ‘Biological sex’, resembling neither female nor humans. So the next step will be 7 anatomy, while the presence of testosterone (secreted from the male. (See diagram to left). to show that these genes truly adrenal glands), can masculinise the external organs (as in the influence the brain - and not just The 8th to 12th week condition Congenital Adrenal Hyperplasia – CAH), and some in mice. It is then hoped that in the future, through a simple At this point the sex organs are formed. If there is an research suggests even the brain. blood test, doctors will be able to absence of androgen (testosterone), the genitals are accurately establish the Brain Sex Ongoing research pre-programmed to become female, regardless of the genetic sex, of new born babies who have It is currently believed that for both sexes, the feeling of having a ambiguous genitalia, taking the (e.g. XX), and alters the developing gonads into ovaries. guesswork out of it for clinicians, DID YOU KNOW? particular gender identity comes predominantly from Brain sex There is a higher risk of a and the possible emotional child developing a genetic An XX foetus will typically have no masculinising hormone (physiological), while, as previously mentioned, Nurture plays a turmoil to parents and ultimately condition, e.g. Cystic Fibrosis, (testosterone), and so the male structures called Wolffian ducts part in the formation of our ultimate gender identity. the child. Down’s Syndrome or begin to die under the influence of Mullerian Inhibiting Hormone Continued p44 margin... Klinefelter’s Syndrome, if a Recent research in the Netherlands points to a fundamental (MIH), and the external structures take on the female form of the: woman conceives later in life. relationship between physical structures in the brain and gender M2 Generally, clinicians see this clitoris 1 labia majora (outer labia) 3 vagina 4. (See The Sex/Gender Spectrum - as over 35. Also recent identity and behaviour. However, “we don’t know yet whether the Terminology & Usage, starting research points generally to a There are also various genes which assist in the process by sexual dimorphic structures described so far in the brain are the on p63). dramatic fall in fertility after 28 years of age. preventing the development of male hormone producing cause, or just a symptom of gender dysphoria and I don’t think (contd. on p46) structures; such as Leydig cells. we will know soon.”DS/M1/M2

42 43 REFERENCES p11 CONTACTS p74 The KS Story – e not alon Human Reproduction You are Continued from p43 margin. is missing or reduced, or if the foetus doesn’t respond to M3 The Male SRY: The two papers mentioned in the testosterone, as in individuals with Androgen Insensitivity Sex Determining Region of the Y New Scientist, 19th October ‘02 chromosome. article by Andy Coghlan are: 3rd to 7th week Syndrome (AIS). (See p23 for the various KS karyotypes). Vilain, E. et al. Males start off in similar mode to females, however around the Sexually dimorphic gene Pre-natal diagnosis expression in mouse brain 6th week if the embryo is genetically male, genes on the sex Chorionic villus sampling (CVS) at about 10 weeks or precedes gonadal differentiation. chromosome, in this case Y, (SRY gene)M3 signals the creation of Department of Human Genetics, amniocentesis at about 16 weeks is available for older mothers; University of California, testicular cells, called Sertoli cells. With the assistance of another generally defined as over 35 years of age. However, it should be Los Angeles, USA, and – gene these cause other cells to become testicular cells. Carruth, LL.1 Reisert, I.2 pointed out that there is a risk of miscarriage associated with the Arnold, AP.1 Direct effect of sex chromosome 8th to 12th week latter tests, currently about 1:100. Your consultant can advise you Puberty genes on sexual differentiation of Leydig cells in the gonadal ridge start to produce the on this, and any other questions you may have. the mouse brain in vitro. Diagram: 1) Department of Physiological masculinising hormone testosterone, which triggers the Based on data from: Science, and the Laboratory of (Important: Please also read the ICSC chapter p48, which development of the male reproductive tract from the Wolffian Dr Ratcliffe, SG. Neuroendocrinology of the Brain Y outlines ‘Preimplantation Genetic Screening’ (PGS) for aneuploidy Children & young adults with sex Research Institute, University of ducts, and the Sertoli cells make a hormone called anti-mullerian California, Los Angeles, USA. conditions, which occurs at around 2 days after fertilisation). chromosome aneuploidy: The hormone (AMH), which destroys the Mullerian ducts, which would Y Edinburgh study of growth and 2) Unatomie und Zellbiologie, der Universitaet Ulm, Germany. otherwise become the female reproductive tract. (Also, see the Further Study chapter contacts, p75 for: developmentY of children with sex X chromosome abnormalities iv. See also: Mayer, A. et al. (1998), • Androgen Insensitivity Syndrome After this point, the chromosomes have only a secondary role Y The Y-chromosomal genes SRY • Congenital AdrenalX Hyperplasia. XXX This paper also containsY valuable and ZFY are transcribed in adult in sexual development. The foetus converts testosterone into X additional data on XXY, XYY and human brain, Department of X Triple X syndromes. Anatomy and Cell Biology, Ulm, dihydrotestosterone which masculinises the external genitalia: • X Germany and The Netherlands X the penis (Glans) 1 Institute for Neuroscience, and • Reisert, I. et al. (1995), the urethra moves to top of Glans from its central position 2 Y Catecholaminergic Systems and the scrotum 3 (see diagram on page 42). Y the Sexual Differentiation of the Brain. Anatomy and Cell Biology, Ulm University, Germany. 20th week to 3 months postnatal 10 XX.5 Age 11.5 12 .513 .5 14 While sex organs differentiate up to the 12th week of gestation, in XX/XY DID YOU KNOW? males testosterone influence upon the brain will typically occur X • Klinefelter’s Syndrome is Onset of Puberty Pubic hair growth classed as a genetic later; in two peaks, the first at mid gestation (around 20 weeks), Male: Y Female: condition. However, KS is not and the second around birth — up to a few months postnatally 47,XXY = 47,XYY = Male Controls = 47,XXX =XX Female Controls = an hereditary condition. XXXX (about 3 months). X It is a change in Meiosis, and X is only called a genetic 1 Acrosome condition because of the “These are probably the peaks that programme sexual Y 2 Vacuole additional X chromosome(s). differentiation of the brain. Because of the time lag between Spermatozoon 3 Nucleus 2 X sexual differentiation of the sex organs and the brain, they can 1 3 DID YOU KNOW? DS 4 Neck 4XY/X Meiosis (reduction division), follow a different course (e.g. in transsexuals).” 5 X 5 MitochondrialXY/X creates 4 daughter cells with only half the chromosomes Puberty Sheath of the mother cell (i.e. 23). In both males and females, it is at puberty that the secondary sex 6 Head It occurs before the formation characteristics are defined by the same hormonal messengers. 7 Middle body of ova and sperm. 6 7 8 While in body cell 8 Tail reproduction, Mitosis Not quite the typical produces 2 cells, with the full As with females, male development doesn’t always go to plan. 46 chromosomes. An XY embryo can become female if the SRY gene or testosterone

44 45 REFERENCES p11 CONTACTS p74 The KS Story – e not alon Human Reproduction You are The early days Week 4 The heart is already beating and the spine and DID YOU KNOW? nervous system are starting to form in the embryo, which is about In the last 50 years the typical male sperm count has DID YOU KNOW? I have included the following human reproduction section to 7mm long. almost halved; probably due (contd. from p42) outline not only the beauty of design, in all its forms, but to to dietary, lifestyle and One study on KS, showed that Week 6 The development of the internal parts of the ears and indicate the various stages (approximate weeks) at which genetic environmental factors. the risk at maternal age 40 is eyes continues under the external depressions, the latter covered 2-3 times that at age 30. and hormonal events take place; primarily relating to Klinefelter’s M4 with skin which will form the eyelids. Holes that will become Carothers, AD. Filippi, G. (1988) Syndrome (in dark blue). Brain development Klinefelter’s Syndrome in nostrils begin to form, as do the mouth and jaw. The brain and Please see previous chapter Sardinia and Scotland. The First Trimester (first 3 months) of development sees the spinal cord are nearly formed. The urinary and digestive tract The Male (p44) for details of Comparative studies of hormonal and gene influence on parental age and other main genetic and hormonal changes. After fertilisation the zygote continues to form and the hand and feet digits are almost the brain. aetiological factors in makes its way along the fallopian tube, dividing as it goes, until recognisable as webbed fingers and toes. Week 6-7 genetic (Also, please see the Further 47,XXY. Study chapter, p76). MRC, Western General after about 3 days it reaches the uterus. By now it is a tiny ball of influence takes place; as the embryo’s karyotype forges the Hospital, Edinburgh, UK. cells called a morula. The ball of cells floats within the uterus for gonads into testes or ovaries. a further 3 days or so until it forms into a blastocyst (a hollow Week 8 By now the eyes are almost formed and the foetus’s length clump of cells), which is just visible to the eye. face continues to develop with a rudimentary nose. The umbilical 100 mm Week 2 The blastocyst embeds itself into the wall of the cord has almost fully formed. The toes and uterus. Chorionic villi projections burrow into the wall lining. The fingers begin to separate. The appropriate outer layer of the blastocyst (trophoblast), begins to develop into hormones now start to play their part; 90 mm the placenta. Blood cells and the first heart cells begin to form. influencing the sexual organs, continuing up to the 12th week.M4 80 mm Ovum (egg) Week 12 The foetus, now around 70 mm Conception to 12 weeks 10cm in length (4”), is not yet conscious, Spermatozoon and although it begins to move around; 1st diagram: not to scale 2nd diagram: is to scale Nucleus thanks in part to fully developed 60 mm Morula inner ears, the mother will still Blastocyst not sense her child’s 50 mm movements. K Zygote Cleavage begins 40 mm (4 cells) Blastomere Ovum pronuclei 30 mm Sperm pronuclei Approx 3 days Approx 3 days Uterus wall 20 mm

10 mm

0 weeks 1 2 3 4 5 6 7 8 9 10 11 12

46 47 REFERENCES p11 CONTACTS p74 The KS Story – e not alon You are AG come to be used at a later date. Sadly, sometimes none of the Chapter updated 10.2010 I C S I “Following the publication of the TC stored embryos will survive freezing and thawing. White Paper, Equity and Excellence: Liberating the NHS, Genetics Intra-cytoplasmic Sperm Injection The difference between the two methods lies with the the publication of the Department of Health’s review of the Arm’s M1 For those men in the past with non-mosaic Klinefelter’s Syndrome, fertilisation process. With IVF, eggs and sperm are placed in Length Bodies (ALBs) in the NHS ‘One at a time’ is a professionally- culture medium in vitro (‘in glass’ – not actually a glass testube sets out the Government’s led site aimed at reducing the who wished to have a family, life was bleak. But nowadays there intention, during the course of risks of multiple pregnancies from may be the option of ICSI (as in Pixie). It basically depends on but a plastic culture dish) and fertilisation occurs ‘naturally’. this Parliament (2010-15), to fertility treatment. It also offers a With ICSI a single sperm in injected into the cytoplasm of each retain the statutory functions of good patient perspective. whether you have live sperm. the HFEA and to transfer them to w: www.oneatatime.org.uk/ mature egg. other health bodies, in particular the Care Quality Commission. M2 ICSI was discovered by Belgian scientists in 1991 and is one of Signs that fertilisation has occurred are usually present 16-20 These proposals form part of the The HFEA produces a variety of the assisted reproductive technologies (ARTs) that can be cross-Government strategy to statistics on the treatment particularly useful in cases of male infertility. Here it can literally hours later. 2, 3 or 5 days after eggs retrieval, embryo transfer increase accountability and licensed centres provide and have transparency, and to reduce the a comparison of birth rates be true that it takes only a single sperm to bring about into the woman’s uterus can be carried out. (See diagrams). number and cost of quangos. following ICSI and IVF at: fertilisation and hopefully a successful pregnancy. During any transition period the w: www.hfea.gov.uk/2588.html Although ICSI improves fertilisation rates compared to IVF, contact details for the HFEA and #3038 Sperm retrieval will be by ejaculate or testicular fine needle once fertilisation has been attained the pregnancy rate is no the HFEA’s website address will More information on this and M2 remain the same. For further details of the Department of other aspects of ICSI at: aspiration (FNA) from the epididymis of the vas deferens (PESA or better than with IVF. Health’s review of the Arm’s National Institute of Clinical Per-Epididymal Sperm Aspiration) from the testicles themselves Length Bodies please see the Excellence (NICE) There have been some follow-up studies on ICSI, the M3 Department of Health’s website w: www.nice.org.uk/CG11 (TESA or Testicular Sperm Aspiration) or extracted from a sample associated risks are outlined on the HFEA website. When at: w: http://www.dh.gov.uk.” NICE policy covers England, of biopsied testicular tissue (TESE or Testicular Sperm Extraction). genetic problems Scotland and Wales. Other have been detected One of a number Ovum (egg) held in guidance for the NHS in Scotland In both ICSI and IVF (In Vitro Fertilisation), embryologists will 1 of Ova (eggs) is developed by: attempt to fertilise as many eggs as they are able to recover (this by chromosome 2 place by pipette Quality Improvement Scotland 1 Nucleus w: www.htbs.org.uk could be up to 20). That said, following public consultation, in analysis and the Scottish Intercollegiate 2 Zona Pellucida 2007 the HFEA introduced a policy to reduce the risk of multiple (Karyotyping), 3 Guidelines Network 4 3 Ooplasm w: www.sign.ac.uk genetic counselling ICSI births and attendant problems from patients identified as most 4 Sperm within Northern Ireland guidance is essential so that Intracytoplasmic likely to conceive twins. Now one embryo (max) should be micropipette development from the M1 Sperm Injection Northern Ireland Executive transferred per cycle. the risk of passing w: www.northernireland.gov.uk/ on a genetic Ovum within culture and the Department of Health, The exception to this is for women over 40 using their own problem to a child One of a number Social Services and Policy Safety IVF eggs who may have up to 3 embryos transferred. During the of Ova medium w: www.dhsspsni.gov.uk/ are completely In Vitro 1 Nucleus M3 fertilisation process some eggs may fail to fertilise or fail to 1 Fertilisation understood. 2 Zona Pellucida Description of ICSI: develop after fertilisation. While the HFEA guidance on the w: www.hfea.gov.uk/ICSI.html 2 3 Ooplasm maximum number of embryos transferred has not changed, Diagnosis and The HFEA website also has a 4 Weak spermatozoon useful glossary: menu (top right). because of the complexity of this procedure, the latter policy Screening 4 swimming under their procedures 3 The risks: statement may also be relevant. own power w: www.hfea.gov.uk/icsirisks.html In conjunction with If there are embryos that are surplus to immediate transfer ICSI and IVF the most requirements that are of suitable quality, these can be frozen and common screening stored for future use. It must however be remembered that not all procedures to assess the genetic ‘normality’ of embryos are PGD embryos will survive freezing and subsequent thawing when they (Preimplantation Genetic Diagnosis) and PGS (Preimplantation

48 49 REFERENCES p11 CONTACTS p74 The KS Story – e not alon ICSI You are M4 Genetic Screening). PGD is used to test for specific genetic Examination of these cells provides an indication of the number of M7 The PGD & PGS procedures are “In terms of information the UK based on information kindly conditions and characteristics. PGS is used to identify the chromosomes within the ovum. National Screening Committee supplied by the Human number of chromosomes present in a cell, by analysing them does not provide details about Fertilisation & Embryology After removal of a polar body by micropipette, the ovum is this condition [KS]... as there is Authority (HFEA). about 2 days after fertilisation, when the morula has within it no programme to screen for this placed in an incubator. This procedure is usually only carried out condition.” w: http://guide.hfea.gov.uk/guide/ around 8 cells, called ‘Blastomeres’ (see diagram on p46). Department of Health You can access more information where there is thought to be a risk of maternal age-related Richmond House, 79 Whitehall and research papers on This involves a technique called ‘Fluorescence in-situ aneuploidy, (e.g. KS), where maternal meiosis stage 1 errors are a London SW1A 2NS everything mentioned, by using Hybridisation’ (FISH); which uses small pieces (probes) of DNA, factor. That said, if parents have had the search box at NCBI: previous experience of having a w: www.ncbi.nlm.nih.gov which are labelled with different coloured fluorescent dyes, which child with a genetic condition (obtains results from PubMed, It is now possible to carry out PGS tests on a Polar body amniocentesis will be offered by OMIM and other databases), or attach themselves to the various chromosomes of each type in the NHS. With the support of a M4 thereby avoiding the need to remove a blastomere from the search direct from PubMed at: the cell; enabling the geneticist to count them. genetic counsellor, parents can w: www.ncbi.nlm.nih.gov/pubmed embryo. then decide whether to proceed or not. M5 While both these procedures are generally defined as a means There is strong opposition to PGS and other procedures of this HFEA licensed clinic directory: to identify ‘abnormal’ cells and to select ‘normal’ embryos for As mentioned, KS may also be w: http://guide.hfea.gov.uk/ kind from some groups who see a single cell blastomere as a Yidentified indirectly during PGS guide/AdvancedSearch.aspx transfer, this often refers to inherited genetic conditions within a for other genetic conditions. potential human being. That said, it is not for me to make Parents will then be informed and family history. Y referred to the regional genetics judgements within this guide, but to leave you to make up your team. Please note However, as I mentioned on page 15 (margin); Klinefelter’s own mind on the ethics. X UK YNational Screening Syndrome is a highly complex condition which affects people in Committee (NSC): M6 Your doctor or consultantX can give you moreXXX up-to-date Yw: www.nsc.nhs.uk/index.htmY different ways. A minority will be seriously affected, others will Pre-implantation Genetic information on everything mentioned here, including success Department of Health Diagnosis (PGD) X struggle, while the vast majority will overcome earlier difficulties X w: www.dh.govX.uk is a technique that enables rates, clinical geneticists and genetic• counsellors. There are also For ‘Code of Practice & Guidance or will be totally unaware of any symptoms. After all, who wrote people with a specific inherited information sites on the web on the clinical, ethical andX moral on Genetic Paternity Testing’ condition in their family to avoid and designed this book on Klinefelter’s Syndrome?! Y • and ‘Guiding Principals for passing it on to their children. aspects of prenatal screening and diagnosis. K Commissioners of NHS services’. For more details visit: With regards to Klinefelter’s Syndrome, unless there are Y w: www.hfea.gov.uk/ preimplantation-genetic- serious complications, termination should not be the overriding XXStop Smoking Suggestions diagnosis.html objective in seeking any kind of screening. XX/XY Pre-implantation Genetic BreathingX through and nourished by the lifeline that is the For• the UK: Visit the NHS Choices ‘SMOKEFREE’ website. Screening (PGS) For the number of clinics in the UK licensed for PGD and PGS umbilical cord, the embryo or fetus is a part of the mother. You can also Chat to an adviser online by clicking the link (also known as aneuploidy M5 Smoking during pregnancy can increase the chances of Yon the Home page, top centre, under the phone number. please see the HFEA website. There are no centres currently producing a child with Klinefelter’sXXX Syndrome. Men who w: http://smokefree.nhs.uk/ screening) involves checking the XX chromosomes of embryos smoke reduce their chances of fathering a child by two to The website also has numbers for Asian language advisors. licensed in the UK to carry out PGD specifically for Klinefelter’s three times. The latter study which relates to bothX IVF and conceived by intra-cytoplasmic X NHS Stop Smoking Helpline: 0800 022 4332 ICSI, also points to a marked reduction in retrievable eggs sperm injection (ICSI) or Syndrome [2010], however, most centres carrying out PGS for NHS Pregnancy Smoking Helpline: 0800 169 9 169 and fertilisation, if the mother is the smoker. in vitro fertilisation (IVF), for chromosomal ‘anomalies’ will use probes for sex chromosomes Lines open Mon to Fri 9am to 8pm,Y Sat & Sun 11am to 5pm common anomalies. A study by Dr Zitzmann, M. (2002), Isle of Man Smoking Helpline: 01624 642 404 For more details visit: and will, as a matter of course, identify embryos with Klinefelter’s Smoking damages IVF chances. Northern Ireland Smoking Helpline: 0800 85 85 85 M6 Institute of Reproductive Medicine, Münster, Germany. X w: www.hfea.gov.uk/70.html Syndrome. In addition to other aneuploidy conditions those Scotland Smoking Helpline: 0800 84 84 84 XY/XWales Smoking Helpline: 0800 1690 169 Clinics licensed to undertake PGS: clinics licensed for PGS use probes for trisomies: 13, 18, 21 and XY/X X If you live outside the UK: I suggest you either obtain a recommendation from your MD, or do an online search for reputable England 11; Northern Ireland 0; M7 Scotland 0; Wales 1. X & Y. government based or supported sites. Just type into the search field: ‘Stop smoking’ followed by your own country’s name (For more details see M5 above). (obviously in your own language). I tried it, and from the search lists found USA: www.smokefree.gov/ This site also includes a link to: http://women.smokefree.gov/ For Australia: www.quitnow.info.au/ I also tried India, New Zealand and Sweden There are no clinics (in the UK) ‘Polar Body’ testing. A developing ovum will produce two and got similar results. If you’re not sure51 if the site is government based, look for an official REFERENCEScrest or read theirp11 CONTACTSAbout Us p74 licensed to screen for link. The aforementioned sites are just suggestions. I strongly recommend that you do your own search. Klinefelter’s Syndrome. small cells called ‘Polar bodies’, which do not develop into However, centres using PGS will functioning egg cells; degenerating after fertilisation. identify KS as a matter of course.

50 51 REFERENCES p11 CONTACTS p74 The KS Story – e not alon You are Important female tissue is present in the primary and/or secondary sex personal note Is KS an organs. Klinefelter’s Syndrome individuals have no female This chapter was completed in Intersex condition? characteristics in their primary and/or secondary sex organs, i 2005 and does not take into Intersexi account the Consensus only those of a male. Thus they are not intersexes. It really is as Statement on Management of As mentioned in the chapter Human Reproduction, there are four Nothing has been left out of this Intersex Disorders, published simple as that. There are no rational reasons for considering chapter; laying all the facts before in 2006. ways of recognising a baby’s sex; Klinefelters as anything but male as we know a Y chromosome you and giving you a broad (Please see the end of this database in which to investigate chapter (p55) for more details). Genetic sex its karyotype - e.g. 47,XXY; can overcome the effect of as many as four or five X further. M2 Last - but definitely not least I have been incredibly fortunate Biological sex according to internal organs; chromosomes and XXXXXY individuals are indubitably male. ” There is a whole world of opinion to have had the opportunity to Biological sex according to external sex organs; and out there on this subject. For ask questions of so many Viewpoint B starters, try the following: visit important scientists, both in the Brain sex structures which are believed to be linked Absolutely, Klinefelter’s Syndrome is an Intersex condition. By w: www.nlm.nih.gov/pubmed/ UK and abroad, who’s pioneering with a particular sex. “ work spans half a century in the definition, an Intersex condition is any one in which individuals Sax, L. fields of biological and cytogenetic To the outsider, there seems to be a great deal of confusion How common is intersex? a research. Without their support have biological characteristics that combine features typically Yresponse to Anne Fausto-Sterling. and patience The KS Story would regarding the classification of Klinefelter’s Syndrome as an (Viewpoint A) now be so many megabites in a both male and female. Some of these conditions, but not all, are Gold, C. ‘The Intersex Spectrum’. bulging hard drive folder. Intersex condition. So what does Intersex mean? accompanied by ambiguous genitalia.Y (Viewpoint B) I appreciate that professional Adapted from: Syndromes of feelings run high regarding this The Oxford Concise Medical Dictionary defines intersex as: ...it is a mistake in thinkingX that the ambiguous condition is AbnormalY Sex Differentiation subject, and that I am dealing “an individual who shows the anatomical characteristics of both The Johns Hopkins Children’s with lifelong careers and passions. needed or characteristic. For instance, there are even recorded Centre, Baltimore, MD, USA M5 X XXXY w: www.hopkinsmedicine.orYg/ I don’t want to rub anyone up the sexes”, while a medical research paper swopped ‘anatomical’ cases of true hermaphrodites having typical appearing genitalia. wrong way; particularly those X pediatricendocrinology/ who are trying to help me, but I for ‘biological’. X • You can also findX the latter and am no academic, I know only the Along with Klinefelter’s Syndrome, there is also Turner’s other useful information at the facts that are supplied by the However, like everything else associated with KS, it’s not that Syndrome that is quite a common intersex conditionX without following website: experts — but I don’t know who simple. There are basically three schools of thought on the Y • w: www.pbs.org/wgbh/nova/ is right! ambiguous genitalia. (Turner’s have an XO condition, where the gender/spectrum.html And so the consequences of current definition of an Intersex condition. As far as those ‘O’ represents a missing chromosome. AndY this missing asking the above question has researchers I have asked, most have declared, in a polite but firm M6 troubled me greatly; should I chromosome mightXX be an X or Y). include ‘Intersex’ within the guide. manner that “there is no debate.” XX/X M5 Y And having decided, trying to Considering all those various conditions the intersex obtain a balanced consensus on From talking to others it would seem there is no right or X • Martin, E A., Editor, (1998), the response. Then ultimately conditions without ambiguous genitalia might be as common as Oxford Concise Medical Dictionary afraid of how everyone involved wrong, since it is a matter of definition. “Just well meaning 1:100 while those withXXX ambiguous genitalia mightY occur about 5th edition, Oxford University would react to the final chapter... scientists interpreting the same information in different XXPress, Oxford, UK. To this day I can’t understand MD 1:1500 - 1:2500.” [Figures relate at leastX to US and UK]. X M6 how this confused situation ways.” Furthermore, it would seem there is no independent “Girls and women who have hasn’t arisen many times before. authority who can mediate on these views. Advocates 2 & 3 agree that an XXY individual should be raised Relating to Klinefelter’s TurnerY Syndrome, and their Syndrome, all articles and as a male, though the latter points out that “these individuals families do not see themselves For this chapter a few of the great names in cytogenetics and documents I have found to date, also have XX, that is typically a female characteristic. The as having an Intersex condition. state one explanation or the other biology have contributed their expertise, but there is a whole XThey are most definitely female.” and never the twain. Routinely, assignment on the basis of the penis insteadXY/X of the XX is historic Turner Syndrome Support Society intersex is never mentioned. world of opinion out there. In the end, it is for you to decide. X w: www.tss.org.uk and easy sinceXY/X the XX is not visible. Concluding, the individual, Of course, I could simply have M3 (Contact details on p75). avoided the whole issue and Viewpoint A however, may wish to live as a woman.” moved on to another non- “An individual born with male genitals and a Y chromosome confrontational subject, but I felt It is also pointed out by this advocate that Viewpoint A that I would be letting the reader within the karyotype is classified by most medical researchers as down if I didn’t at least try to M1 ignores the development of breast tissue as a sign of obtain some facts and so I male.” decided to investigate further, feminization. and to include ALL viewpoints. “There is no debate on whether or not Klinefelters are Continued in opposite margin... “intersexes.” Intersexes are individuals in which both male and Contd.

52 53 REFERENCES p11 CONTACTS p74 Is KS an Intersex condition

Acknowledgement: Viewpoint C The majority of contributors wished to be attributed and referenced, and I It is clear from the supplied document that Klinefelter’s Syndrome would like to thank all those involved is included within this study of intersex. However, this advocate ‘Disorders of Sex Development’ (DSD) for their time, politeness and patience. intimated in the covering letter that the ‘question’ “depends on M1 (Viewpoint A) In 2006 there was a new medical-based which can in French-speaking countries mean Contributor has retired and has how you define intersex.” Further, it is pointed out that the study nomenclature for ‘hermaphroditism,’ something entirely different and offensive. not confirmed name inclusion. paper “is a practical and philosophical question of gender really, ‘pseudohermaphroditism,’ ‘intersex’ ‘sex And finally, it implies the likelihood that this M2 (Viewpoint A) and there is no correct answer, only practical, personal and reversal’ and gender-based diagnostic terms new term will encompass other conditions Prof P A Jacobs OBE, DSc, FRS to ‘Disorders of Sex Development’(DSD). with different etiologies not previously Wessex Regional Genetics, philosophical choices.” considered intersex. Laboratory, Salisbury, UK. According to the authors, this is a term Stated in a letter to the Compiler. “‘Abstract The belief that Homo sapiens are absolutely referring to “congenital conditions in which Despite the controversial nature of this (02.2002). dimorphic with the respect to sex chromosome composition, development of chromosomal, gonadal, or subject, it has been politely suggested that M3 (Viewpoint B) gonadal structure, hormonal levels, and the structure of the anatomic sex is atypical.” This now includes after so long in the making, it was time to Prof M Diamond, PhD Klinefelter’s Syndrome and its variants (see stop updating this book and get the first pdf University of Hawaii, internal genital duct system and external genitalia, derives from John A Burns School of Medicine, Table 2 of ‘Consensus Statement on distributed. I will therefore seek comments Honolulu, USA. the platonic ideal that for each sex there is a single, universally Management of Intersex Disorders’). from all concerned, including the KS Stated in a letter to the Compiler. correct developmental pathway and outcome. We surveyed the community and add an in-depth section in (10.2001). While I would imagine that the vast majority [International] medical literature, from 1955 to the present, of society are pleased to see the end of the the next pdf update, within the chapter: M4 (Viewpoint C) Sex/Gender Spectrum -Terminology & Usage. Prof A Fausto-Sterling, PhD [2000], for studies of the frequency of deviation from the ideal term ‘hermaphrodite’, it is clear that not Professor of Biology and Gender male or female.’ everyone is happy with this new terminology. Please email any relevant information for the Studies, Brown University, 2012 update to: [email protected] Providence, USA. “We defined the typical male as someone with an XY There are four main areas of opposition: that Stated in a letter to the Compiler, chromosomal composition, and testes located within the scrotal of minimal consultation with those who are In the meantime I include some reading (01.2003), with supplied paper: actually ‘intersex’; conflict with the word material for this new nomenclature. You can Fausto-Sterling, A. et al. sac. The testes produce sperm which, via the vas deferens, may ‘Disorder’, which implies there is something also do your own web search for ‘Disorders of How Sexually Dimorphic are we? be transported to the urethra and ejaculated outside the body. wrong; the definition of ‘Sex Development’, Sex Development.’ Review and Synthesis. Penis length at birth ranges from 2.5 to 4.5cm (Flatau et al., 1975); an idealised penis has a completely enclosed urethra ‘DSD Guidelines and Policies, Consensus Statement on Management of Intersex Disorders,’ Lee, P.A., MD, PhD, et al., Pediatrics 2006;118;e488-e500. DOI: 10.1542/peds.2006-0738 which opens at the tip of the glans. During fetal development, http://pediatrics.aappublications.org/cgi/reprint/118/2/e488 the testes produce the Mullerian inhibiting factor, testosterone, Opposition: and dihydrotestosterone, while juvenile testicular activity ‘Variations of Sex Development Instead of Disorders of Sex Development’ ensures a masculinising puberty.” Beh, Hazel; Diamond, Milton (2006) www.hawaii.edu/PCSS/biblio/articles/2005to2009/2006-variations.html Within this viewpoint, intersex is defined as the following: ‘Changes in Management of Children with Differences of Sex Development,’ • “Sex” chromosome composition. Individuals with XXY, XO, Diamond, M. and Beh, H.G., Nature Clinical Practice: Endocrinology & Metabolism 4(1): 4-5. 2008 XYY, XXYY, XX males, and XXX females... www.hawaii.edu/PCSS/biblio/articles/2005to2009/2008-changes-in-management.html • Androgen insensitivity in XY individuals... ‘What is in a Word?’ Michelle O’Brien, OII, UK (Complete and Partial) www.intersexualite.org/intersex_not_disorder1.html • Congenital adrenal hyperplasia... ‘Why is OII not using the term DSD or Disorders of Sex Development?’ (Classic and Late-onset) Organisation Intersex International • Vaginal and penile agenesis... www.intersexualite.org/Response_to_Intersex_Initiative.html • Hormone-producing tumors and exogenous sex hormones... M4 • True hermaphrodites and idiopathic mixed genitalia...” K

54 55 REFERENCES p11 CONTACTS p74 The KS Story – e not alon You are There is nowadays the added fear of Cyber bullying; the use of Children, Bullying information & communication technology, particularly mobile phones logged-on to social networking sites (SN), which Young People Children and In general, bullying is a harrowing and relentless experience, with penetrates even the perceived safety of the victim’s home. Cyber and Parents individuals subjected to verbal threats and actual physical abuse. Young People bullying can also take place between children and adults; such as Use one of the popular search a teacher, which can cause great stress and depression. engines to access several other ChildLine At school... valuable sites, including: t: 0800 1111 Individuals of school age who are bullied often feel alone and Apart from accidentally uploading personal details or images BullyingUK unable to tell anyone in authority; particularly teachers; in case of Formally Bullying Online • ChildLine is the free 24-hour which can later cause upset, there are trends on certain SN sites, w: www.bullying.co.uk helpline for children and young reprisals. Even if the bully responsible is punished or expelled people in the UK. such as the ‘Like’ button (2010), generally intended to embarrass Kidscape • Children and young people can there is still the real risk; in the victim’s mind, that the bully will a person, possibly with crude comments about their sexuality. w: www.kidscape.org.uk call about any problem, at any ‘get them back’ somehow, at some point in the future; perhaps time – day or night. when the person feels safe. Usually close school friends have each other’s mobile phone • ChildLine is confidential, which number, so if pals fall out it can be extremely harrowing to receiveY means they won’t tell anyone For children and teenagers with Klinefelter’s Syndrome there is People of all about your call unless you want text message abuse and threats, particularly as x-pals will probably them to talk to somebody for you, already an aura of low self-esteem and a sensitive nature. They’re know some very private and possiblyY sensitive information about ages or you are in danger. generally unwilling to fight and to participate in rough contact Y There are many good samaritans • If lines are busy, please keep the other person. X sports – all traits the bully can reinforce to their advantage. Kids out there waiting to listen to you trying and you will get through. Y with KS also make ideal victims since they are easily brought to Many schools todayX have set up peer supportXXX groups and and offer confidential support.Y ChildLine is the free helpline and there are specific helplines available for children and teenagersX in Use a search engine and type: online service for children and tears by the merest of threats of gang beatings or extortion. X ‘Adult bullying in [type in your young people in the UK. Children this situation, but it is still vital that teachers and parents play X • own country]’, or ‘talk to and young people can call X Often with a reluctance to involve parents, bullied individuals their part in listening and supporting all vulnerable individuals of 0800 1111 • someone’, or experiment with with KS may not get the full support they need and will struggle bullying; whether they haveY Klinefelter’s Syndrome or not. text yourself. or visit www.childline.org.uk within the abuse/fear cycle until they either crack under the Y It may be that your website to talk to a trained counsellor pressure and seek help, or resort to truancy to avoid any Of course it should be stressed that often there are underlying browser has a search button about any problem, or talk to reasons why a child resorts to bullying, such as conflict specifically for results from your other young people on the confrontations. In extreme instances, some only see one way out. XX elsewhere, resulting in low self worth, and that by informingXX/X a own country (e.g. ‘pages from the message boards. Y UK’). Clicking on it. I experienced bullying at primary and secondary school, teacherX about an incident it may also bring to light •these though thankfully it was sporadic. Occasionally I even managed problems; allowing counselling and support. Whatever you decide to do, go Y carefully. Choose a well known to interact and even receive praise from ‘the enemy’; those boys XXand trusted organisation. who saw themselves as far superior to myself, which brought ...college, universityXXXX and workX forth a kind of pride that I had been accepted. But all too often it Bullying doesn’tX stop when a teenager leaves school. Further was short-lived. education and in the workplace, unchallenged; those who seek Y power; at whatever level of authority, will seek out and create Given enough harassment I occasionally snapped into a kind victims. And it’s not just women who are victimised at work. X of damage limitation frenzy, but with blind rage and limited XY/X fighting abilities the fracas was usually over relatively quickly, As a well practicedXY/X coward it is easy for me to say that X with me nursing my wounds – and usually in tears. So more often workmates should try to support their colleagues and wheedle out those people who bully, but sadly in the big world it’s not that than not I gained a reputation for swift strategic withdrawals; Further details and preferring flight rather than fight. easy. A victimised employee hasn’t even the luxury of truancy. Legal Support And if the bully is a director of the company – what then? Perhaps Please see the Further Study Kids can be cruel at the best of times and bullies know all too talking to a trusted family member, close friend or one of the chapter p78 for information on all contacts mentioned in this well that they can always have another go at the ‘soft-touches’ adult support networks, such as those mentioned in the margin or chapter, including advice on legal who seem unable to challenge their authority. within the Further Study chapter, may be the answer. K support.

56 57 REFERENCES p11 CONTACTS p74 The KS Story – e not alon You are

In the later stages the pain and M1 there are some treatments, such as Klinefelter’s Syndrome associated weakness can be w: www.nos.org.uk bone grafts. Later stages typically dramatic. Motion can also be National Osteoporosis Society lead to surgery, e.g. a partial or Links to other conditions (NOS). See Further Study p78 for restricted as both bone and contact details. total hip replacement. This Avascular necrosis, cancer, diabetes, leg ulcers, joint becomes weakened; through lack of oxygen cartilage are broken down and the M2 involves replacing the femoral osteoporosis... and nutrients; slowly dying, to the point of its smooth head of the femur What is Klinefelter’s Syndrome? head with a titanium prosthesis collapse. becomes jagged and worn within An introduction paper by the and a special polyethylene cup All these conditions have been linked to Klinefelter Organisation. See p74 the pelvic socket. fitted into the pelvic socket. Klinefelter’s Syndrome in one medical paper or What causes this condition? for contact details. (Try a computer web search for an another. But as mentioned several times before, There are several general causes; from trauma, The time between the first M3 illustration or photograph of a hip everyone is different. There are also generally and damage to blood vessels, fat blockages and symptoms and loss of joint function w: www.medicinenet.com/ Diseases & Conditions/ prosthesis). applied criteria for having these conditions, for embolisms. is different for everyone; ranging Klinefelter’s Syndrome. example; current medical thinking states that it is from several months to over a year. This was in turn based on text What about pain management? Associated conditions: unlikely KS is involved in leg ulcers if there is from NICHD (part of NIH), Dr A To try and maintain a decent These include Caisson’s disease, Crohn’s disease, How is it diagnosed? Robinson, Uni. of Colorado, USA. venous insufficiency, or other underlying causes. quality of life, progressively Cushing’s Syndrome, Gaucher disease, Sickle Cell Initially, in the case of the femur, M4 stronger analgesics can be The following will give you a basic disease, Chronic Pancreatitis, Rheumatoid the doctor or rheumatologist will w: www.cancerhelp.org.uk prescribed, as well as NSAIDs background to these conditions and their Arthritis, Steroid usage, Systemic Lupus rotate and flex the joint to check Go to the Cancer Research UK, website on p76 for details. (non-steroid anti-inflammatory association with Klinefelter’s Syndrome (KS). By Erythmatosis, Alcoholism... and Klinefelter’s for pain and stiffness. M5 drugs). In severe cases, an all means study these links, but don’t get bogged Syndrome (allegedly). Avascular necrosis diagnosis is Swerdlow, AJ. et al. anti-inflammatory can be injected down in self-analysis and worry — everyone is Mortality and cancer incidence in In my own case, there is a dichotomy of often made by X-ray. However, by directly into the joint area; under a different. persons with numerical sex opinion on this link. Rheumatology sees it as the time film X-ray tests show up chromosome abnormalities: local anaesthetic; which gives pain Avascular necrosis endocrine based, while endocrinology is not substantial damage can already A cohort study. relief for up to 9 months. This Section of Epidemiology, Institute If you have KS or have been recently diagnosed, convinced that testosterone deficiency is the have been inflicted on the bone usually require a 2-3 day in-patient M1 of Cancer Research, Sutton, then you should be either under the care of an culprit. To be fair, both consultants agree that (up to 30% bone density loss), Surrey, UK. stay; to monitor the application. endocrinologist (in the UK referred by your GP), or there is considerable medical literature linking therefore this form of X-ray is Meguerditchian, AN. et al. Continued bone maintenance? be receiving hormone replacement therapy. The Klinefelter’s Syndrome to Osteoporosis. However, usually considered for later-stage Male breast carcinoma. Including the testosterone sex steroid (hormone) testosterone there seems to be no specific case findings. Dept. of Surgery, Universite Laval, Quebec City, Quebec, Canada. replacement therapy you take for is necessary to maintain healthy DID YOU KNOW? studies of KS directly linked to Approximately 10% of To detect early signs, MRI Klinefelter’s Syndrome; to ensure bones. Avascular Necrosis (a form of M6 testosterone is converted into scanning (magnetic resonance Swerdlow, AJ. et al. (2005) the bone does not deteriorate, you oestradiol (an oestrogen) to osteoporosis). Avascular necrosis is a imaging) may be used to see the Cancer incidence and mortality in may be placed on a non-steroid maintain bone growth. men with Klinefelter’s Syndrome: disabling condition which, in What are the symptoms? condition of the internal bone A cohort study. osteoporosis therapy, which entails severe cases, can lead to joint collapse. In the early stages there may be no symptoms at structure, and particularly to the Section of Epidemiology, Institute taking a daily tablet, for at least 3 all, however, as the condition progresses, which neck of the femur. Alternatively, a of Cancer Research, Sutton, years —possibly life. The condition can start with few warning Surrey, UK. can take months, most individuals will experience DEXA scan (Duel Energy X-ray signs, perhaps only with a dull ache in an This treatment temporarily joint pain, and/or referred pain in areas such as Absorptiometry), also known as M7 See M3. unrelated area. Although it can happen in any stops ‘turnover’ (the breakdown of the knee, quadriceps or back. There will be DXA, will be used to assess the bone it most commonly affects the femur. Other bone) for 14 days, followed by a calcium tablet for limited motion and stiffness of the joint and density of the bone, and the risk of fracture. common sites include ankle, upper arm, knee 76 days (three month pack). weakness within the leg muscles. and shoulder. What treatment is available? Cancer The condition can affect just one joint; such This depends critically on what stage the What is Avascular necrosis? Male breast cancer as the hip, or both hips, or different joints at avascular necrosis has reached. In the early It is caused by the death of blood vessels to a Of the very limited research currently available, it different times. stages (before changes show up on film X-ray), particular area, and in the case of the femur, the is clear that generally, men have a very low risk of

58 59 REFERENCES p11 CONTACTS p74 The KS Story – e not alon KS linked conditions You are developing ‘breast’ cancer, with a Chest/Breast Diabetes Obesity M8 injections, dropping vital therapy possible higher risk for individuals self-awareness “Compared with other males There is no doubt that Klinefelter’s Robinson, S. et al. and perhaps never commencing While it is well known that men with gynaecomastia, though one individuals with KS have a slightly Syndrome is linked to obesity, but Diabetes secondary to genetic hormone replacement in the first should regularly check their disorders. KS support group suggests that it testicles for lumps, it is becoming higher risk of autoimmune KS is not the direct cause. Eating Unit of Metabolic Medicine, St place. This can lead to extreme clear that they should also check M7 may be the hormonal imbalance in for lumps within their chest or disorders.” the wrong diet is the culprit. Mary’s Hospital Medical School, osteoporosis. KS which causes cells to become breasts. This is particularly London, UK. important for individuals with KS The most common of these Obesity is a very serious Pei, D. et al. Yes — you’re right, I am trying cancerous rather than actually who have a hormone imbalance. conditions is type 1 diabetes. In a condition – one in which I know all Insulin resistance in patients with to scare you. For it’s the only way M2 (Based on guidance for a female, having the breast tissue. Klinefelter’s Syndrome and but equally suitable for a male British study, “the increased too well, having spent most to get the message across. with KS and/or gynaecomastia). idiopathic gonadotrophin A couple of sources and one frequency of diabetes in of my adolescent and adult life deficiency. Remember what I said on page 15? 1) Using a mirror, look for any website puts the risk factor as differences between the two Klinefelter’s Syndrome, Turner’s trying to correct and is linked to Division of Endocrinology and ‘If you take only one piece of similar to women, at 50 times that sides, in-drawing of the nipple and Syndrome, and possibly Down’s cancer, strokes and heart disease. Metabolism, Tri-Service General advice from this guide.’ Will this is M3 changes in the skin. Hospital, Taipei, Taiwan. of a typical male. The same 2) (Raise your arms above your Syndrome lead to the hypothesis it! No excuses now... GET YOUR Those with KS will find it easier M9 source mentions the need for XXY head). Check for changes in the that non-disjunction may, in some TESTOSTERONE TREATMENT! contour of your chest/breasts, as to gain weight and harder to lose Villemur, B. et al. adolescents and adults to practice tumours can cause in-drawing or way be associated with a Leg ulcer and Klinefelter it, and many with KS will be Osteoporosis worsens silently, regular breast self examination. puckering of the skin. predisposition to diabetes.” Syndrome. 3) (Lower your arms). With your over-weight or obese. Service de Chirurgie Vasculair and when breaks occur they can be opposite hand feel one side at a While a Taiwan study states that (Pr. Guidicelli), CHU, Grenoble. The Cancer Research UK time, starting at the armpits and caused by a small amount of force patients with Klinefelter’s For a child, sweet things are a website suggests a 20 fold upper area of chest wall (tissue M10 and are painful and debilitating, extends this far). Press gently but Syndrome “have a higher favourite and all to easily they are Varaart, JC. et al. increase in a person with KS, but firmly in a circular motion with M8 Leg ulcers with hyperpigmented leading to months of pain and the pads of your fingers. Feel for incidence of diabetes mellitus.” on the slippery slope to weight concludes that this is still a very any thickening of the tissue or a maculae and white atrophy as stress. M4 problems. For this reason, parents low risk factor. new lump. Leg ulcers manifestation of Klinefelter’s of a diagnosed KS child, or Syndrome. If you have been without 4) Don’t miss anything. Make One study from France reported Germ cell cancer sure you check the whole area, teenager, will be advised by their Academisch Ziekenhuis, afd, hormone replacement for decades working inward towards the that an individual with chronic leg Dermatologie, Maastricht, Those with KS also have a very nipple. Pay particular attention to GP or dietician, as to the most then you should talk to your GP. ulcers, (six years), was diagnosed The Netherlands. small risk of developing germ cell the area beneath the areola, appropriate diet for their child – The procedures will be much like (brown or pinkish area around the with Klinefelter’s Syndrome. It also M11 cancer, and the risk factor is nipple). Don’t forget about the and this should be for life! For more details contact the those mentioned in the nipple, look for dry flakiness. stated that there was a higher greatly reduced after the age of 30, National Osteoporosis Society Endocrinology chapter. Squeeze it gently to detect any Cancer link (NOS). See Further Study p78. discharge, (red, brownish, milky frequency of venous insufficiency the peak being between 15-30. M9 w: www.nos.org.uk or yellowy). in patients with KS. While a One of the causes of breast cancer What is Osteoporosis? Judging by recent research into Look also under arms and above study from The Netherlands stated in males is from high oestrogen M12 It is the loss of bone density, which clavicals (base of neck) for swollen Breuil, V. et al. KS links to cancer, the incidence of lymph nodes (glands). that leg ulcers, especially in levels. All males produce some Gonadal dysgenesis and bone in advanced stages can leave these cancers are very low or If you discover anything, get it combination with hyper- oestrogen, which helps to maintain metabolism. individuals vulnerable to frequent inconclusive.M5 (See Obesity). checked out by your GP. It could our bones, but high oestrogen Rheumatology Dept, CHU de Nice, bone fractures, particularly of the just be fat tissue — on the other pigmentation or atrophie blanche Hospital l’Archet 1, France. hand it may not. of the surrounding skin can be a levels have been linked in the past spine, hip and wrist, destroying Other cancers M13 You should do the above once or symptom of Klinefelter’s Syndrome to breast cancer. Besides chronic quality of life. In 2005 a study of other possible twice per month, around the same Delmas, P. et al. time of day. It’s easier to do this and are not necessarily to be liver conditions and genetic Osteoporosis in Klinefelter’s associated cancers, on behalf of in the shower or bath with a Syndrome Quantitive bone Generally, osteoporosis is worse soapy hand. attributed to venous conditions obesity is a causal the UK Clinical Cytogenetics Group, M10 histological data in 5 cases and in the elderly, and in women It is important to become familiar insufficiency. element; in that oestrogen is partly relationship with hormonal suggested that men with following the menopause. While with your chest/breasts and to made in fat tissues of the body. deficiency. (French paper, no Klinefelter’s Syndrome may be at know what is normal for you. Both these papers contradict a establishment details available). more women are affected by Remember, early action substantially elevated risks for can make a difference. verbal medical statement that leg Osteoporosis M14 & M15 osteoporosis (1 in 3, compared M11 non-Hodgkin’s Lymphoma and In general, males take 8-9 months ulcers are only likely to be linked There are many people with KS Try the ‘Search’ facility at: with 1 in 12 men), generally, M6 before contacting their GP about w: www.nlm.nih.gov/pubmed/ perhaps lung cancer. sexual matters, compared with 3 to KS if there is no underlying who have an aversion to medical (National Institute of Health more men suffer from ‘Avascular months for females. venous insufficiency. establishments and particularly to website, USA). necrosis.’

60 61 REFERENCES p11 CONTACTS p74 The KS Story – e not alon You are Chapter updated 07.2010 What causes this condition? DID YOU KNOW? advanced cases, if that breakdown Like any subject, take care what For those with Klinefelter’s is part of the femoral head for The Sex/Gender In-depth information you read. Even if viewed from Syndrome, as well as males in reputable newspapers or example, pain is very much in Spectrum Please see end of chapter for general, one of the risk factors is websites, back-up with proof from evidence when exposed ragged details to more information on other sources, i.e. medical papers Terminology & Usage the following definitions. from low levels of testosterone or specific support groups. bone interacts with the muscle and and dihydrotestosterone (called For example: January 2004 – cartilage of the surrounding pelvic M12 Understanding and Compassion incorporating themselves into other groups’ hypogonadism). Because these saw press coverage for a new socket and tissue. drug with strong claims that it sex steroids (hormones) play an As yet there are no controls politics, which can cause would give hope to thousands of How is it diagnosed? over how our body’s blueprint VERY IMPORTANT serious inter-group disputes essential role in the maintenance women crippled by osteoporosis, • Use ‘Transsexual’ as an after it was found that the risk of As with avascular necrosis, normal of bone mass, some studies have creates us. We are born how adjective, never as a noun, e.g. and confusing terms and spinal fractures was reduced by X-rays do not highlight “He is a transsexual person.” been done to investigate males 90% after taking it. we are born. definitions. The situation also osteoporosis soon enough, and Not, “He is a transsexual.” with gonadal dysgenesis, One source said that “[it] is the It is strange that the older changes from country to first drug to not only halt the again, DEXA (DXA) scans are • Use pronouns preferred by particularly those with Klinefelter’s disease, but to begin to cure it.” intersex and trans people. Don’t country. And if that wasn’t employed to measure the bone humanity gets the more Syndrome. Another source said that the drug confused it becomes. Aren’t we ever call them ‘he/she’ or ‘it.’ confusing enough, it also was also available for males. density. “It is currently the most • Do not make assumptions that seems that even to those Studies have shown a reduced At that time the drug was actually accurate and reliable means of supposed to learn from our someone is gay, intersexed or a only being prescribed to a limited working in sexology on a daily osteoblast function and reduced 5 assessing the density of bones. It experiences? Why can’t transsexual person based on number of patients with very voice or appearance. basis sex/gender terminology alpha-reductase activity; which is severe osteoporosis, who had to is a 10-15 minute painless humanity abandon outdated fulfil certain criteria. It was not a and usage is confusing! responsible for partial resistance cure for osteoporosis, nor was it procedure, that uses very low Victorian attitudes, put aside to androgens, with increased bone licensed for men. doses of radiation.” M11 sensationalistic notions, flip negative to So opening your mind is one thing, but turnover, particularly at the femoral However, that’s not to say positive —and celebrate the diverse when you don’t understand the answer, then M12 situations like this are static. Treatment, Pain Management and neck. In another case it was Guidelines can change, and some spectrum of its offspring?! you’re going to wonder why you bothered; Ongoing bone maintenance suggested that bone rarefication in men may be able to join trials of i.e. what is and what isn’t PC. And to cap certain drugs. Basically as Avascular necrosis. Why does it have to be difficult; why can’t KS is associated with a reduction in For more detailed information on it be easy? Unacceptance often comes from everything else, terminology is fluid, so what hormones, not directly with the this treatment, or osteoporosis in As with the latter condition, ignorance of the facts and unfamiliarity. With you are about to read will undoubtedly chromosome condition.M13 general, contact the National there is one thing that anyone with Osteoporosis Society. M11 just a little more understanding and change. KS can do right now, and that is to Associated conditions: compassion, think how much less grief there I would be lying if I said the following discuss possible hormone replacement therapy These include chronic use of corticosteroid drugs, with their doctor or an endocrinologist. would be in the world. wasn’t complicated; it took over a year to get Crohn’s disease, chronic immobility, gastric That said, today, more than at any other this chapter right, but I hope like me, you will surgery, heavy drinking, a history of fractures, low Don’t jeopardise your future health for the time, there are those who are willing to cast be astonished at what you are about to read. body weight, smoking and specifically to KS; sake of a few seconds (possible) discomfort aside outdated prejudices towards minority And please persevere, for the more we those with low levels of testosterone each month. understand and use these terminologies the (hypogonadism). There is also a recognised and physiological and social groups, and to try Of course if you’re suited to the testosterone more we help everyone – and made a well documented link between KS and Systemic and understand. But accepting other sex or gels (see p24) there should be no excuse! difference. lupus erythematosis, and the latter to gender groups is one thing, but what terms osteoporosis.M14 Other conditions do you use without causing offense? Key words: There are also (possible) KS links to conditions Terminology and Usage Sex, Gender, Sexual Identity, Gender Identity, What are the symptoms? such as Taurodonism and Radial Ulnar Synostosis, Gender Role, Gender Dysphoria, Warning signs are usually a broken bone resulting As far as Sexology is concerned, around the and because of the slightly increased risk of Gender Identity Disorder, Transsexualism from a minor fall, curvature of the spine and globe language is in flux; altering the autoimmune conditions, there are links to Asthma Transgendered, Androgyne, height loss. M15 meaning of well established terminology and and Chronic Thyroiditis. K definitions. This is compounded by various Sexual Orientation, Intersex, Transvestism. In itself, osteoporosis causes no pain; it is social communities who periodically interact, purely the thinning of bone tissue. However, in

62 63 REFERENCES p11 CONTACTS p74 The KS Story – e not alon The Sex/Gender You are Spectrum Sex and Gender Hawaii, John A Burns School of Medicine, certain. There is likely to be some ‘Gender Roles’ on the other hand, could While these two terms are Hawaii, USA, which relates to a ‘modification’, which does not be said to be openly or M1 M4 generally used interchangeably Paper by the Gender Identity sizable part of the world. show itself until after birth Gender Identity Research & discretely dictated by society, Education Society (GIRES) Research & Education Society, by society without any difficulty, when behaviour patterns are (See Further Study page 76). for example, in the way girls UK. However, the name ‘Sexual it is when medical, research, ‘Atypical Gender Development – Identity’ is an issue in the UK, observed. M5 learn to keep their knees Zucker, KJ. et al. (1992), Gender political, legal and religious A Review.’ Available on their together, properly adjust their Australia, New Zealand and Gender identity may or may Identity Disorder in children. website. w: www.gires.org.uk/ aspects arise that this some parts of the USA, where it not be in accord with the sex clothing and apply make-up, generalisation can lead to M2 while boys tend to sit with their legs spread Prof Dick F Swaab, Director, refers to ‘Sexual Orientation’. characteristics of the rest of the body. Where confusion and Netherlands Institute for For this reason I strongly advise there is profound and persistent discord the wide open, memorising the rules of sport. misunderstanding. Neuroscience, Amsterdam, and Prof LJG Gooren, Free University you to contact the Gender individual may be said to be a transsexual Throughout life, gender role will be ‘Sex’ describes the Hospital, Amsterdam, Identity Research & Education person. influenced by interactions with family and the perceived external or respectively, have produced Society (GIRES)M1 or another rest of society. papers, recognising clear physical Nothing stands still in research and some anatomical or biological image; structures within the brain gender information group for studies have shown a fundamental Not all transsexual people will decide to ‘phenotype’, while ‘Gender’ is relating to gender dysphoria. the current terms. (Please see relationship between Gender Identity and change their gender role so that it conforms the psychological identification (Please see Further Study p76 p76 for contact details). for more details). “hormonal changes at puberty, which alter to their gender identity. of the individual, it is how M3 Sexual Identity & previously set neuronal systems within the Gender Dysphoria or individuals experience Prof Gooren, LJG. (1993), DS/M2 Gender Identity hypothalamus of the brain.” Gender Identity Disorder (GID) themselves. Gender is also the It is expected that the diagnosis ‘Sexual Identity’ is the way social/cultural expression of of Transsexuality may be In fact, “Transsexuals clearly show This relates to the conflict between a modified with increasing someone sees his or herself as evidence of mixed structures.” LG/M3 person’s gender identity and the sex that identity. Typically, of scientific and medical knowledge male or female, based on the course, these elements of sex to Neurological Intersex. Although it has not yet been determined if characteristics of the rest of the body. Free University Hospital, person’s outward physical this is causal or symptomatic. (These areas and gender are consistent, Amsterdam, The Netherlands. appearance (phenotype). “Despite considerable gradations most “Sex typically, but not always, are called SDNs, or Sexually Dimorphic [people] are close enough to one end or the ‘Gender Identity’ is the Nuclei). represents what is between one’s legs, perceived social image of being a boy/man, other of the gender/sex spectrum that they whereas Gender represents what is between or girl/woman. Gender Role never have to question whether their gender one’s ears.”MD ‘Gender Roles’ refer to our idea of how boys identity is consistent with their sex. Since For example, a KS person may see their and girls and men and women should act and this is true for most, it is assumed to be true Identity – Sexual Identity ‘Sexual Identity’ as male but see their As mentioned, terminology and its definitions be treated in society. for all babies - that what you see is what you ‘Gender Identity’ (their psychological self) as get. But this is not always so.” M4 vary enormously around the world and the feminine and prefer to live as a woman e.g. For example, it used to be that men’s above term is no exception. Originally this “I am a woman trapped in a male body.” ‘Gender Roles’ were typically associated with Some people are born male but their book was targeted at the UK reader, but now strength, aggression and dangerous brain, as they develop, tells them that they covers other parts of the world. Because of In the typical individual sexual identity occupations, while women’s ‘Gender Roles’ are a girl or woman, or born female and feel this, the above term varies from country to and gender identity are in agreement. It is related to a gentle nature, childrearing and that they are a boy 0r man. It is as natural to country. Trying to explain this has caused only when the individual is possibly a nurturing. Nowadays, to a certain extent, them as it is to others who are, for example, much confusion, stress and gnashing of Transsexual person or Transgendered that it these roles are more blurred, with women born male and know they are a boy or man. teeth. becomes an issue – and only in certain becoming the sole bread-winners while the societies. There are cases of gender conflict in For my sanity and as there is limited man becomes the house-husband. Of course children as young as 4.M5 It is believed that like Sexual Identity, these descriptions change around the world, space here to explain it all, the following are Whatever the reason, and there are the terms and definitions originally supplied Gender Identity is hard-wired into our brains, for example, in African societies roles will be but there is insufficient evidence to be very different to those in the UK. many, it is a powerful and compelling force. to me by Prof M Diamond, University of We are, what our brains tell us we are.

64 65 REFERENCES p11 CONTACTS p74 The KS Story – e not alon The Sex/Gender You are Spectrum Transsexualism of both men and women and who preferred Androgyne or Transgendered person). Transsexualism arises from a conflict to slip in and out of these gender roles or There are two definitions for this term. One Two individuals have a female partner between the brain and the rest of the body. maintain the combination. Lately however, it refers to the androgynous (sexual) aspect of and while one is happy to be a man, the Transsexual people are those M6 has taken on the reverse males and females (see Intersex p68), the other lives and works as both a man and a who exhibit the criteria for It should be noted that GID is not meaning, including second to the androgynous aspect of woman. So, I can only really comment on Gender Dysphoria or Gender used for children; who have “transsexuals, transvestites, masculinity and femininity (gender). separate criteria. A child or the third case history... myself. M6 Identity Disorder (GID). adolescent with gender dysphoria drag queens [and kings] and The latter definition is explained here, as it is generally not considered a I had a slow gender shift, resulting in Sometimes distinctions are others who bend society’s is often used, particularly in the UK and parts transsexual person until he or she usual gender boundaries. around an 85% masculine/15% feminine made as to whether the person is an adult. of the USA, where this community of people shift. I am unsure if the gender shift was is a preoperative or M7 & M8 Some welcome the term owing are called ‘Androgynes’. Other terms include: Take a look at the research to its inclusiveness and others caused by a chromosomal or hormonal postoperative transsexual papers by Prof Diamond agendered, between genders, bigendered, influence on my brain during gestation person. mentioned at the end of this abhor it for the same gender fluid, gender-neutral, intergendered, MD caused by the Klinefelter’s Syndrome or chapter, for more information on reason.” non-gendered and pangendered. To partly remove the these complex subjects. some other physical or psychologically distinctions of Gender Identity From recent studies it is clear Society has grown up within a sex and unconnected factor. that individuals who exhibit transgender Disorder and Gender Dysphoria which are gender binary system. As we welcome the While this diagnosis was not made by a clinically associated with the term behaviour want to change aspects of their dawn of life we are assigned a gender gender, but don’t necessarily want to healthcare professional, it does not detract ‘Transsexual’, the terms ‘Transman’ & governed by what genitalia we have. But from how I feel. And although I don’t openly ‘Transwoman’ were adopted – later modified permanently change their sex. That said, in there are those who see a whole spectrum of 2010 the UK media still use the same discuss my dysphoria, I can say that I have – to ‘Trans Man’ and ‘Trans Woman.’ genders; individuals on the fringe of both the and will continue to be, happy to maintain definition for transgendered and transsexual and transgender communities. These recent terms are used, at least in transsexualism. my man/ male persona and to embrace my the UK; rarely in the US, in the context of, for It relates to a person who’s gender feminine side. My only regret was in not example, “That person was born female, but As with different social groups so there transition isn’t 100%, e.g. a male who feels telling those closest to me until recently. is now living as a trans man,” and vice versa. are global changes to the definitions. In that they are both genders, a man and a I am heterosexual and previously married. some states of Australia for instance, they woman at the same time, in comparison to a (See A Personal Message p30). There are other transsexual people who use ‘transgender’ exclusively for extend the MtF/M2F (male to female) or transsexual person who knows that they are Maybe others with Klinefelter’s Syndrome ‘transsexualism’, (generally shortened to totally the opposite gender, example: FtM/F2M (female to male) acronyms, to ‘Tranny’).M7 hide their mixed gender feelings too. It WBM (woman born male), or MBF (man born a male who feels she is a woman. would be intriguing to discover just how female), or MBT and WBT (man or woman It seems like the Australians, that some This divided gender mix can sit anywhere widespread this trait is within the KS born transsexual). “These designations are other communities around the world, such as along the man/woman spectrum e.g. 70% community and what the mean percentage used to indicate that they believe their homosexual and bisexual people and also man/30% woman or 30% man/70% woman. shift is, but sadly my efforts to find out have, other groups such as intersex, are adopting condition is natural and that they were born Like any gender related issue, these understandably, yielded silence. MD the term transgender. in ‘the wrong skin’.” feelings can be an extremely sensitive and Sexual Orientation Transgendered About five years ago, in the UK the term emotional aspect of a person’s life and may This term relates to whether you are This term is currently open to several ‘3rd G’ (Third Gender) and in the States the not be divulged even to a partner, spouse or attracted to the opposite sex, your own sex, definitions. term ‘TGV’ (TransGender Variant) were close family members. or both. In other words Heterosexual adopted, though it is not clear if these (Straight), Homosexual (Gay male or Lesbian) In the past the term was “adopted by While I have heard of three individuals terminologies took hold and became or Bisexual (Bi). Also, Pansexual and Asexual. individuals who might otherwise be commonplace. with KS with this gender mix, because of my identified as intersexed, transsexual or even limited study so far, it is not clear how they Currently the above terms are used to homosexual or bisexual”,MD exhibiting traits view their situation (Androgyne, Transsexual describe a person (e.g. “He is Bisexual.”).

66 67 REFERENCES p11 CONTACTS p74 The Sex/Gender Spectrum However, it has been suggested that for clarity genitalia’ forgetting that they are excluding a The original term made by Magnus Common confusions the terms should be used to describe large proportion of intersexed patients who Hirschfeld (1910) identifies all orientations Transsexualism and Intersex: behaviour, rather than people have a complete female participating (i.e. straight, gay and bi). “‘Transsexualism’ may be understood as a DID YOU KNOW? and to use non sex/gender It has been suggested that: phenotype (and usually no However, to most sexologists today the term conflict between the psychological terms which avoid the stigma “It will be familiarity rather than sexual or gender identity refers to heterosexuals only. identification as male or female on the one knowledge that finally takes that goes with terms such as away [Intersexuals] supposed problems). This causes us a lot Up to now the term has meant a person, hand, and on the other, the phenotype ‘homosexual’ etc. strangeness.” AF-S of problems as the media pick up usually male, who acquires erotic pleasure by (external sex appearance), and the gender role BR These relate to the on this... conveying to the wearing clothes of the opposite sex. While this which is associated with that phenotype.” DID YOU KNOW? erotic/love preference of an Regarding Intersex and general public that gender will be true for some, in recent years many ‘Intersex’ is a person who shows anatomical Transsexualism, “Socially the identity is, of necessity, an issue heterosexuals have disagreed with the latter characteristics of both sexes and embraces a individual, that is: groups are quite distinct. Androphillic = male loving Whether or not biological factors in intersex which it is absolutely definition, stating that autoerotic pleasure is wide range of different conditions. “Intersex is MS exist that cross the definitions is not.” not the motive, but a part of their personality genetic, except in rare cases where drugs, (attracted to people with male debatable.”MD sex organs); Gynoecophillic = You may come across the which cannot be expressed in any other way. chemical and hormone factors are involved.”MC female loving (attracted to DID YOU KNOW? terms ‘Hermaphrodite’ and That said, for some individuals there can be “Intersex is genetic, except in Transsexualism and Sexual Orientation: people with female sex organs); very rare cases of ‘Pseudo-hermaphrodite.’ a sexual element to it; for example, feeling the Transsexual people aren’t automatically M8 Ambiphillic = both loving. environmentally induced intersex Medicine took on these terms in texture of the clothes, or observing the reaction from drugs, chemicals and attracted to the same sex. For example, a male Intersex hormones that have entered the the 1800s. The name originates of other people. to female (MTF/M2F) transsexual person mother prior to, or during from a Greek mythical character Please note: See p52-55 for pregnancy, or damage to the Around the world there are societies in believes she is female, but may seek a male MC which had a complete set of ‘Intersex’ definitions, or contact father’s sperm.” existence specifically for heterosexuals and partner (which should be regarded as a female and male internal and the AHN, AIS and CAH support their wives, with the Society of the Second Self heterosexual relationship), or a female partner external reproductive organs, “which in reality groups for an extensive description of Intersex, (SSS) being the largest (which should be regarded as a is totally impossible.” MS relative to their own conditions. (Contact organisation of its kind in the US. In-depth information lesbian relationship). details p77-78). This chapter has been compiled However, it is possible to be born with one The latter shows that the way with the invaluable assistance According to current studies, The majority of this chapter was completed in ovary and one testis, or one organ with both people dress doesn’t always of the following people: “it is more common for FTM/F2M 2005 and does not take into account the ovarian and testicular cells (ovotestis). This is identify our preferred partner. MC Miss M Cull, Adrenal transsexual persons to be an extremely rare condition and can affect Hyperplasia Network (AHN), UK. Consensus Statement on Management of To postoperative transsexual w: www.ahn.org.uk attracted to females MD Intersex Disorders, published in 2006. Please those with KS. people crossdressing is not MD Prof M Diamond, University predominantly.” (See also the see p55 for more details. of Hawaii, John A Burns School Sexual Orientation section). That said, some people (including those generally sexually arousing as it of Medicine, USA. “Intersex (IS) groups are against shame, with KS) consider themselves – and are is their typical everyday attire. Some definitions used from: Hopefully one day, secrecy and non-disclosure. IS groups, adults considered by others, to be ‘Androgynous’ and ‘Sex and Gender are Different: Females also cross-dress, Sexual Identity and Gender (undoubtedly when I’m and teens in particular, are also against call themselves ‘Androgynes.’ This term applies Identity are Different,’ and however, the term transvestite is fertilising the ground), surgery without informed consent, unless life- primarily in Australia and parts of the USA. What’s in a name? – Some terms rarely applied, since females are used in the discussion of Sex threatening circumstances due to both the humankind will celebrate the The term ‘Hermaphrodite’ is very able to wear male clothing far and Gender.’ diversity of its offspring. psychological and physical damage to sensate occasionally used in the USA and UK, but more easily. For instance, in w: www.hawaii.edu/PCSS and sexual function. BR Mr B Reed, Gender Identity ‘Intersex’ is now the preferred term. “Most of business circles it is common to Research & Education Society No longer will it be viewed as Parents and clinicians though still often our members detest these hermaphrodite see female fashion depict grey (GIRES), UK. a dichotomy, but will look back opt for early surgery, as society is so terms.” “...we feel these terms should be pin-stripped trouser suits & ties. w: www.gires.org.uk/ at these dark ages and wonder MS MS Ms M Simmonds, Androgen unaccepting of IS because it’s not banned from the medical literature.” Insensitivity Syndrome Support why we had such difficulty MC There are also those who understood.” Group (AISSG), UK. recognising and accepting our Transvestism (or Crossdressing) cross-dress for theatrical w: www.aissg.org/ “Sometimes even specialist clinicians use Like many of the other terms this one can mean purposes and they will be of any illuminated sex/gender the term ‘Intersex’ to mean ‘Ambiguous more that one thing. orientation. spectrum. K

68 69 REFERENCES p11 CONTACTS p74 The KS Story – e not alon You are Further Study Cautions, Suggestions & Useful tips Every effort has been made to check out the Please remember when enquiring about Addresses and Websites to Support Groups following contacts. However, occasionally information from support groups; even if Medical Specialists and Research Units inter-group politics and other situations can you’re not asked, to enclose a SAE or stamps; arise and you can get the odd bogus as the majority are run as charities, by people I hope that the following contacts help you to When you do visit your GP take a written organisation that slips through the net – so who rely on donations for their funding. find what you are looking for; be it a few note of all your symptoms, explain how you get into the habit of thoroughly checking out explanatory leaflets, someone to talk to on feel, try not to leave anything out; you may If the person you are dealing with is in any group or individual; whether it is the phone or through correspondence, or regret it later, and if you want to talk about another country, consider asking what a included here or elsewhere. Try obtaining understanding and help from another family emotional things consider asking to see a suitable donation would be (particularly if going through the same things as yourselves. counsellor. information from two or three groups, for you plan to access information on a regular comparison. A good place to start is the FAQ basis). But nobody will expect you to do this I wish you every success with your Like your doctor, things you say to a and About us links on a group’s website. studies, but like so much in life, be sensible counsellor are strictly confidential. Don’t if you are getting pocket money! about it. Just because there might be a expect quick results though, as it can Names and addresses can also change, as Do you live outside the UK? Klinefelter’s Syndrome link to another sometimes take a number of weeks. well as websites. I have included some contact names, which are preferable to If you are not from the UK please adapt the medical condition, don’t automatically You may prefer to initially contact one of ‘Madam/Sir’, but please remember people information within the Further Study chapter assume you’ve got it too. Even with the the support groups. They are usually run by same karyotype everyone is different and will move on. Websites can also be in the to suit your own country; particularly when people with the same condition and offer making international phone calls. (Please see have vastly differing symptoms and traits. support and information. Support groups process of being upgraded. Don’t give up foot of previous page). If you feel really strongly about a subject, also have a louder voice than just one though, go back to the site another day. then talk to your GP. But please, remember person, if you want to be heard. It is possible that like me, you will settle that doctors have a very heavy workload, so on your own favourite and trusted contacts; be sure no one else can help you first. giving the best information for your particular condition. I have tried to include Libraries as many as possible to aid in your search. Take full advantage of your local library’s and there may be a charge for this service. And hopefully once the book is circulated, resources and the expert knowledge of the There is a small list of books and published more organisations will wish to add their staff, who can also acquire published research papers at the end of the contacts, contact details, which I can include at the research for you to borrow. There may be a which may be of interest to you. Support small charge for loans outside your region. next pdf update in 2012. groups will be happy to advise you on Most libraries offer Internet access. There publications for your particular condition. There are also some contacts which are is usually a maximum time limit (e.g. 1 hour) included as a ‘thank you’ for their invaluable assistance with specific chapter Need to make an international phone call? facts and figures, and aren’t necessarily If phoning outside your own country, please For instance, to phone the UK, dial oo 44 linked to Klinefelter’s Syndrome. remember to include the International Access before the Area Code. Examples: to phone In most countries, particularly the USA, Code of your own country; the Country Code Contact a Family, dial oo 44 020 7608 8700. the word Klinefelter is used, rather than for the place you are calling; the Area Code (if You will have to drop the first zero of the Area Klinefelter’s. it has one) and the Local phone number. Code (tinted). To phone Canada dial oo 1 first.

70 71 REFERENCES p11 The KS Story – e not alon Further Study You are Website search tips Title words FURTHER STUDY pdf LINKS TO WEBSITES Unused to using the Internet? Here are wish to return to your original site then add it Try using words that might be in the title of Addresses in two lines some tips to get you started on your studies. to your ‘Favourite’ or ‘Bookmark’ folder. the document you seek, for example (starting Due to technical aspects beyond my with the search term): title:“klinefelter comprehension (grrr), website links on the When you first access a particular website, If you have difficulty getting back to your syndrome” (note, no space between colon following pages which are in two or more quite often you can gain a good deal of original site, go into ‘History’ and click on the and first quotes, and no apostrophe ‘s’ for US lines, will not function. For these links, take a valuable information from the FAQ page appropriate site. sites). For Google use the search terms note of the address or adjust your web (Frequently Asked Questions). USING GENERAL SEARCH ENGINES allintitle: or intitle: The former term will look browser window so you can read the address If you are unable to access the information Here are a more Internet tips for you to try. for all words in the title, while the latter any link in the book, then manually add the you require from a particular site, go to the words. For Yahoo use t: additional lines of text to your browser’s ‘Plain-English’ searches Home page and if a ‘Search’ facility is search field. The simplest search for beginners. For Case-sensitive searches available, type in key words within the field: instance, to find other international Always use lower-case unless searching for a Facebook and Twitter also don’t link. e.g.‘Klinefelter’s Syndrome and Klinefelter’s Syndrome support groups, type a person, location, book/paper, etc; then use Osteoporosis’, or variations. An ‘Advanced No hash key? question into the field, e.g.where can I find initial capitals. Search’ facility will give better results, with Please note that some addresses use the swedish klinefelter syndrome support less chance of non-related material. Also Spelling hash symbol (#). For those people who use groups? Or non-specific: ...klinefelter look out for similar linked information Often a ‘no results’ outcome will be caused UK keyboards, you will not have this symbol, syndrome support groups? (e.g. ‘Related articles’). by poor spelling. ‘nough said! instead, type: Alt + 3. K Note: Plain-English searches don’t work on Specific paper titles or the author can be all search engines. typed into a search field in a general search engine, though you would be better going to Key words a reputable medical or support site. There To reduce the quantity of non-relevant are also specialised websites for finding information, in the search field try to use the specific organisations or people. Have a most unique key words. Also try swopping The end of word with your local library staff for books on around your key words, as some search the KS story? the Internet. engines take more notice of the first word. As long as there are people out there trying If a dialogue box states that the web address Multi-step searching to understand Klinefelter’s Syndrome; you asked for cannot be found, try If looking for a specific subject linked to KS, whether for research, support, treatment, or experimenting e.g: e.g. Diabetes, try a multi-step process. First, just you and I trying to understand how our .co .com (company) .org (organisation) give it your best shot, then review the results mind and bodies function, then the KS story .gov (government) .ac (academic) of the first couple of pages picking out key will continue. .ed .edu (education) .net (network). words linked to diabetes, then use these words within your next search. Narrow the Whatever you decide to do. However you You may also have typed a dot instead of a results by using ‘set searching’. To do this, decide to do it. I wish you peace of mind — dash. most leading engines offer a ‘search within and body. There are going to be times when a particular these results’ field. And as you look through the following site will link you to a related article site, and pages, remember... that to yet another site (ad infinitum). If you You are never alone 72 73 REFERENCES p11 The KS Story – e not alon Further Study You are Klinefelter’s Syndrome INTERNATIONAL: An important aspect of the Klinefelter’s Support 47xxy.com (CA) Group is to provide support, information and UNITED KINGDOM: Klinefelter’s Syndrome (UK) e: [email protected] resource materials about Klinefelter’s syndrome to affected individuals and families in Western BBC Health (UK) Association w: www.47xxy.com Australia. Klinefelter’s Syndrome Contact: Mrs Sue Cook klinefeltersyndrome.org (USA) It also endeavours to provide health w: www.bbc.co.uk/health/physical_health/ Founder and National Co-ordinator Contact: Stefan D Schwarz professionals and the community with conditions/klinefelter1.shtml 56 Little Yeldham Road Little Yeldham e: [email protected] information about our Support Group and General information on KS, as well as Diabetes, Halstead Essex CO9 4QT w: www.klinefeltersyndrome.org Klinefelter’s syndrome. Osteoporosis, Thyroids and other medical All telephone enquiries: This website was created for boys, men and conditions. t: 0845 230 0047 (Local rate UK number) their families to have a resourceful place to get Klinefelter Syndrome (AU) Family, child & young people enquiries: Support Group (KSSG) Contact a Family (UK) information. The website also acts as e: [email protected] t: (61) 02 98362970 209-211 City Road London EC1V 1JN information for those learning about the Adult enquiries: m: (61) 0425 240 773 t: 020 7608 8700 f: 020 7608 8701 condition for potential diagnosis or for e: [email protected] e: [email protected] textphone: 0808 808 3556 research projects. Information can be posted; please send an SAE We have phone support, email support, helpline: 0808 808 3555 (C5 or DL). Membership details on website. Klinefelter’s Support Group (AU) discussing issues around Klinefelters, we give e: [email protected] w: www.ksa-uk.co.uk of Western Australia referrals to GPs & Specialists. We offer 1 on 1 w: www.cafamily.org.uk Information and membership are available to 14 Shetland Drive Morgan Fields Estate chats. We seek out information for clients on Please note: both Textphone and Helpline are those with Klinefelter’s Syndrome or its Henley Brook Western Australia 6055 other matters to do with their condition. Freephone numbers, and Helpline is for parents, variants, their families, spouses/partners, t: (61) 08 9296 8661 families and carers only (10am-4pm). friends and carers. e: [email protected] is a UK based charity Contact a Family The KSA accepts that it is the individual’s w: www.klinefelterswa.websyte.com.au/ offering information and advice to parents on right to self-determine if they consider many different conditions. Use the search themselves to be intersex or not. This charity facility to access Klinefelter’s Syndrome. supports and respects, regardless of that Other Sex Chromosome Conditions Klinefelter Organisation (UK) individual choice, those with KS. PO Box 9969 Colchester CO1 9FQ Forum: UNITED KINGDOM: Turner Syndrome (UK) e: [email protected] w: www.xxytalk.com Unique (UK) Support Society (UK) Rare Chromosome Disorder Support Group 13 Simpson Court 11 South Avenue Clydebank Or use the Contact Us link on the website. Contact: Beverly Searle Business Park Clydebank G81 2NR w: www.klinefelter.org.uk Chief Executive Officer t: 0141 952 8006 f: 0141 952 8025 Valuable information and an opportunity to PO BOX 2189 Caterham Surrey CR3 5GN helpline: 0845 230 7520 contact other KS people, including wives, t & f: +44 (0)1883 330766 e: [email protected] w: www.tss.org.uk partners and parents. Membership is available e: [email protected] w: www.rarechromo.org The Society offers support and information to girls to all KS individuals from the UK and Ireland. An international group providing support and and women who have Turner Syndrome (TS), their information to anyone affected by a rare chromosome family and friends. disorder. Support & information for individuals or Aims of the Society; membership details and DID YOU KNOW? families. Rarer karyotypes, not 47,XXY. support; information on links with research units, Although the underlying cause of the additional X Age Linked: health professionals and other support groups, chromosome is unknown, the following is generally agreed. Maternal derived XXY Age causes a marked difference in Triple-X Family Network (UK) please contact the TSSS, or check out the website. maternal meiosis stage 1, but not in stage 2 errors. Support Group Paper by: Jacobs PA, et al. 32 Francemary Road London SE4 1JS Dept. of Pediatrics, Cornell University Medical College, NY, Paternal derived XXY There is no affect caused by age. t: 020 8690 9445 USA, that nondisjunction is attributed to: Some papers waver either side of the above. Example: paper e: [email protected] 53% paternal meiosis stage 1 by: Smyth, CM. et al. University of Seattle, USA, shows: This is a support network started in 1997, offering 34% maternal meiosis stage 1 53.2% paternal meiosis stage 1 support to families of children with karyotype 47,XXX. For XYY Syndrome support and rarer KS 9% maternal meiosis stage 2 3% post-zygotic mitosis 34.4% maternal meiosis stage 1 It publishes a biannual newsletter and has karyotypes, some of which are now considered [1% short] 9.3% maternal meiosis stage 2 3.2% post-zygotic mitosis information available on request. There are over 360 [1% over]. families in the UK and abroad in touch with the separate conditions, please contact Unique or network. try a web search.

74 75 REFERENCES p11 The KS Story – e not alon Further Study You are GENETICS: INFERTILITY: Other Issues Genetic Alliance UK (UK) Human Fertilisation (UK) Unit 4D Leroy House 436 Essex Road & Embryology Authority BRAIN RESEARCH: Society for Endocrinology (UK) London N1 3QP 21 Bloomsbury Street London WC1B 3HF Netherlands Institute for (NL) 22 Apex Court Woodlands Bradley Stoke t: +44 (0)20 7704 3141 f: +44 (0)20 7359 1447 t: +44 (0)20 7291 8200 f: +44 (0)20 7291 8201 Neuroscience Bristol BS32 4JT UK e: [email protected] w: www.hfea.gov.uk Contact: Prof Dick F Swaab MD PhD Professor of Healthcare professionals only w: www.geneticalliance.org.uk/ The HFEA is a non-departmental government body Neurobiology, University of Amsterdam and Leader General enquiries: t: +44 (0)1454 642200 that regulates and inspects all UK clinics providing Research Team Neuropsychiatric Disorders Publications: t: +44 (0)1454 642220 GENERAL MEDICAL: IVF, donor insemination or the storage of eggs, sperm Meibergdreef 47 1105 AZ Amsterdam ZO NL Conferences & Events: t: +44 (0)1454 642210 Department of Health (UK) or embryos. The HFEA also licenses and monitors all t: +31 20 5665500 f: +31 20 5666121 Fax: t: +44 (0)1454 642222 Customer Service Centre Richmond House human embryo research being conducted in the UK. e: [email protected] w: www.nih.knaw.nl e: [email protected] 79 Whitehall London SW1A 2NS Go to NCBI for various research papers by Prof Swaab w: www.endocrinology.org t: 020 7210 4850 textphone: 020 7210 5025 Infertility Network UK (UK) et al., related to sex differences in the human brain The role of the Society is to represent the needs of Opening hours: Monday to Friday 8.30am-5pm Infertility practical & emotional support linked to transsexualism, and to developmental, doctors, nurses and scientists who work in w: www.dh.gov.uk Charter House 43 St Leonards Road Bexhill-on-Sea East Sussex TN40 1JA adolescent, and adult gonadal steroid levels. endocrinology. (UK) ‘You & Your Hormones’is a new website being National Institute for Health t: 0800 008 7464 f: 01424 731858 CANCER: launched in January 2011, which aims to give patients and Clinical Excellence (NICE) e: [email protected] Level 1A City Tower Piccadilly Plaza Manchester Cancer Information Nurses (UK) and the general public reliable information on all w: www.infertilitynetworkuk.com M1 4BD United Kingdom Cancer Research UK aspects of hormone science, including hormone- Factsheets; publications; quarterly magazine; local t: 44 (0)161 870 3133 f: 44 (0)845 003 7785 PO Box 123 Lincoln’s Inn Fields London WC2A 3PX related conditions (examples: Klinefelter’s Syndrome, and regional support groups; videos and information e: [email protected] w: www.nice.org.uk/ t: 020 7061 8355 Osteoporosis, Obesity). days held regularly. The National Institute for Health and Clinical e: [email protected] Patient & General public enquiries We are also part of the Fertility Show; a dedicated Excellence (NICE) provides guidance, sets quality w: www.cancerhelp.org.uk w: www.yourhormones.info/ and discreet environment where you can learn about For information on male breast cancer go to: standards and manages a national database to your fertility issues with experienced and sympathetic w: www.cancerhelp.org.uk/type/breast-cancer/ Please note. In the UK referral to an endocrine clinic is improve people’s health and prevent and treat ill professionals. For more information please visit: about/types/breast-cancer-in-men through a General Practitioner. health - regardless of where they live in England and w: www.fertilityshow.co.uk/ Wales. [See p48 for Northern Ireland and Scotland]. DIABETES: GENDER: (USA) INTERSEX: Diabetes UK (UK) The Beaumont Trust (UK) Prof Milton Diamond PhD Adrenal Hyperplasia Network (AHN) (UK) University of Hawaii John A Burns School of Medicine 10 Parkway London NW1 7AA BM Charity London WC1N 3XX UK e: [email protected] Department of Anatomy and Reproductive Biology t: 020 7424 1000 f: 020 7424 1001 t: 07000 287878 w: www.ahn.org.uk Pacific Center for Sex and Society 1960 East-West e: [email protected] w: www.diabetes.org.uk e: [email protected] Provides support, information, meetings to people Road Honolulu Hawaii 96822 Diabetes UK is the charity for people with diabetes. w: www.beaumont-trust.org.uk/ with CAH. Also provides support for research, t: (808) 956-7400 f: (808) 956-9722 We fund medical research, provide information and Registered UK charity which aims to relieve the researchers and clinicians. Works closely with the e: [email protected] w: www.hawaii.edu/PCSS support to people with diabetes and campaign on mental and emotional distress of people who medical profession to improve treatment and raise Professor Diamond has published a prolific amount their behalf. There are currently 2.6 million people cross-dress or who are transsexual, their partners, awareness of CAH within society. diagnosed with diabetes in the UK. It is believed that families etc and to educate the public. of material on sex and gender issues and lectures there are also 500,000 people who have the widely. More details on website. Androgen Insensitivity Syndrome (UK) condition but are unaware of it. The Gender Identity Research (UK) Support Group (AISSG) & Education Society (GIRES) MedicineNet (USA) Please see website for current contact details. ENDOCRINOLOGY: Melverley The Warren Ashstead Surrey KT21 2SP w: www.medicinenet.com w: www.aissg.org/ Division of Pediatric Endocrinology (USA) t: 01372 801 554 f: 01372 272 297 Comprehensive articles on health and medical topics Worldwide support group originating in the UK, & Metabolism e: [email protected] w: www.gires.org.uk/ produced by US Board Certified Physicians. Go to: providing information/support to adults and families Johns Hopkins University School of Medicine Promotes and communicates research and provides w: www.medicinenet.com/9610 affected by Androgen Insensitivity Syndrome (AIS) – w: www.hopkinsmedicine.org/ education. to read the main article on Klinefelter Syndrome. and similar XY-female conditions. For more Endocrinology: (UK) National Center for (USA) information on cAIS (Complete) and pAIS (Partial), w: www.hopkinsmedicine.org/endocrinology/ The Gender Trust Community Base 113 Queens Rd Brighton BN1 3XG Biotechnology Information please check the website. index.html 0845 231 0505 (UK only) w: www.ncbi.nlm.nih.gov Contact and appointment information is available at helpline: [email protected] A highly recommended site for information on KS and each of these sites. Additional information on KS at: e: w: www.gendertrust.org.uk other associated conditions. For research papers use Pediatric Endocrinology: facebook: Gender Trust twitter: gendertrust the Search field to find specific authors or titles (will w: www.hopkinschildrens.org/tpl_rlinks_ The only UK registered charity specifically helping access PubMed and other databases). For nav1up.aspx?id=2574 adults who are Transsexual, Gender Dysphoric or MedlinePlus (‘Health Topics’ (KS definitions and Transgender and seek to live their lives as men or general health issues), ‘Medical Encyclopedia’ and women despite their genetic background. ‘Medical Dictionary’). Go to National Library of Medicine at: w: www.nlm.nih.gov INTERSEX contd.

76 77 REFERENCES p11 The KS Story – e not alon Further Study You are INTERSEX contd: SOMEONE TO TALK TO: BOOKS & RESEARCH PAPERS: Chris Somers xxy (AU) Specifically about Bullying A case of Human Intersexuality having a possible Klinefelter’s Syndrome Paper by: Dr C M Smyth et al. M.Ed. by Research (UWA); B.Ed. (Melb); Hons. BullyingUK (UK) XXY sex-determining mechanism Paper (Arch Intern Med. 1998; 158: pp 1309-1314). Diploma of Creative Photography (Trent Poly, now Formally Bullying Online by: Patricia A Jacobs and Dr J A Strong Klinefelter’s Syndrome in adolescence Nottingham Trent University, UK) 10C Mornington Terrace Harrogate North Yorkshire (Reprinted from Nature, Vol 183, pp 302-303, Jan 31, 1959). Paper by: Dr Shirley G Ratcliffe et al. e: [email protected] HG1 5DH Androgen Insensitivity Syndrome and Klinefelter’s (Archives of Diseases in Childhood, Vol 57, pp 6-12 Syndrome: sex and gender considerations © 1982 by Archives of Disease in Childhood). A Board member of the Organisation Internationale e: [email protected] w: www.bullying.co.uk Chapter within book des Intersexués: Long term outcome in children of sex chromosome Kidscape (UK) by: Milton Diamond, PhD and Linda Ann Watson, MEd abnormalities Paper by: Dr Shirley G Ratcliffe w: www.intersexualite.org/ & www.oiiaustralia.com/ (© Elsevier Inc. 2004. Child and Adolescent Psychiatric (BMJ, 1999). Paper reprinted from Archives of Disease Please see p79 for a research thesis and one paper Helping to keep children safe from bullying Clinics of North America, 13, (2004), pp 623-640). and abuse in Childhood, February 1999, Vol 80, N0 2, p 192. by Chris Somers xxy. As Nature Made Him - The boy who was raised as a girl Reflecting The Androgynous Perspective through Art 2 Grosvenor Gardens London SW1W 0DH (Perennial, 2001) Book by: John Calapinto Congenital Adrenal Hyperplasia (UK) t: 020 7730 3300 f: 020 7730 7081 Masters by research thesis Edinburgh study of growth and development of by: Kai Chris Somers xxy Group helpline: 08451 205 204 children with sex chromosome abnormalities iv Held at the Scholars Library, within the Reid Library, Main Contact: Mrs Sue Elford CAHG Chairperson Operates Monday to Friday between 10am and 4pm Paper by: Dr Shirley G Ratcliffe Campus, The University of Western Australia. 2 Windrush Close Flitwick Bedfordshire MK45 1PX for parents of bullied children. (John Wiley and Sons, 1991) Contained within a paperback Copies can be ordered for a small administration, copying t: 01525 717 536 e: [email protected] of research papers, titled: Children & Young Adults with and packing fee through Dr Toby Burrows at e: [email protected] w: www.kidscape.org.uk Sex Chromosome Aneuploidy. e: [email protected] w: www.cah.org.uk Send an A4 SAE with 6 First Class stamps for free Atypical Gender Development – A Review Article Retroperitoneal teratoma as first sign of Provides support, newsletters, information and booklets and leaflets on bullying and personal safety. (International Journal of Transgenderism, to be published Klinefelter’s Syndrome Paper by the Hayworth Press Inc). Can be viewed on the GIRES by: S Hachimi-Idrissi et al. meetings for families and people with CAH. They also Runs one-day ZAP courses for children who have website: w: www.gires.org.uk (Archives of Disease in Childhood, Vol 72, pp 163-164, aim to raise awareness of the condition with the been severely bullied. Gynecomastia – A Medical Dictionary, Bibliography © 1995 by Archives of Diseases in Childhood). general public and the medical profession. & Annotated Research Guide to Internet References Sex In the Brain Book (PhD thesis) (Icon Health Publications, March 2004) Book © 2004 by: Frank PM Kruijver LEGAL SUPPORT: “For doctors, medical students, researchers & patients...” ‘Gender differences in the human hypothalamus and UK and International The Human Hypothalamus: Basic & Clinical Aspects adjacent areas; Relationship to transsexualism, sexual I suggest that for England & Wales, Northern Ireland Part II: Neuropathology of the Human Hypothalamus and orientation, sex hormone receptors and endocrine status.’ and Scotland, that you pop into your local Citizen’s Adjacent Brain Structures. Handbook of Clinical Neurology Conducted at the Netherlands Institute for Brain Research. Advice Bureau for information on contacting a law EVERYONE! (Elsevier, Amsterdam. 596pp, 2004) Available on loan from GIRES. society or a lawyer/solicitor. If you are in another Volume by: Dick F Swaab Contact: e: [email protected] country, try your equivalent public advice service. For this first edition of the book, I have tried Chapter 24.4 deals with ‘Klinefelter’s Syndrome or Sexing the body - Gender politics and the to include as many of the main information, testicular dysgenesis.’ Additionally, chapter 24.5 covers construction of sexuality OSTEOPOROSIS: ‘Sexual differentiation of the brain and sexual behaviour.’ (Basic Books, 2001). Book by: Dr Anne Fausto-Sterling advise and support groups as possible, but (Please see p74 for contact information). National Osteoporosis Society (UK) Sexing the Brain Book Camerton Bath BA2 0PJ there are many more out there in countries Intersex in the Age of Ethics Book (Basic Books, 1999). by: Lesley Rogers (Weidenfeld & Nicolson, 1999) by: Alice Domurat Dreger t: 01761 471771 helpline: 0845 450230 around the world; specifically for Sexing the Difference in Gender and the Anomalies e: [email protected] w: www.nos.org.uk Klinefelter’s Syndrome and its variant Klinefelter’s Syndrome Paper of Interpretation Paper by: Kai Chris Somers by: Dr Shirley G Ratcliffe The National Osteoporosis Society is the only karyotypes, and for associated conditions. Requested and written for the 14th annual Australian and An Introduction to Klinefelter’s Syndrome, for parents, New Zealand Society of Criminology Conference. UK-wide charity dedicated to improving the diagnosis, adolescents and adults. Available from the Klinefelter’s prevention and treatment of osteoporosis. Many of the contacts in this chapter Available free of charge by email from Chris Somers xxy or Syndrome Association (UK) (See p74). may be seen on the www sites of OII, (p73 for addresses). PLANNING A FAMILY: include on their websites, useful links to e: [email protected] Please discuss options with your GP. organisations around the world. SOMEONE TO TALK TO: They also have resource links to genetic MEDICAL JOURNALS AND SCIENCE MAGAZINES: ChildLine (UK) groups, conference details, support group British Medical Journal (UK) The Lancet (UK) ChildLine is the free helpline and online service for Contact: Ms Geetha Balasubramaniam e: [email protected] campaigns, current research, activities to Product Manager w: www.lancet.com children and young people in the UK. Children and get you out the house and meeting other... BMJ Publishing Group BMA House Tavistock Square The Lancet is a weekly general medical journal that young people can call or visit: London WC1H 9JR publishes peer-reviewed research papers and review t: 0800 1111 If you are a support group committee t: +44 (0)20 7383 6396 f: +44 (0)20 7383 6661 articles on all aspects of medicine. w: www.childline.org.uk and would like your group’s contact details e: [email protected] w: www.bmj.com New Scientist (UK) to talk to a trained counsellor about any problem, or included in the next pdf update in 2012, e: [email protected] talk to other young people on the message boards. All research articles are free, but all other full text please get in touch: articles, after 2006, are subject to a subscription w: www.newscientist.com (See p56 for more details). charge. For more details go to: Excellent science and technology magazine. e: [email protected] w: http://resources.bmj.com/bmj/about-bmj Also published in Australia and USA. K

78 79 REFERENCES p11 The KS Story – t alone u are no Yo The For Guidelines in safely creating & sending your manuscript (pdf): An important message Diaries [email protected] 2010 Living with Klinefelter’s Syndrome

It’s one thing to spout facts & figures, but another matter to actually live every moment with Authors’ manuscript, written permissions and any personal details will be filed in a secure Klinefelter’s Syndrome. And you can help. No matter what your association with Klinefelter’s location. Please note, I will not include your story on the pdf without your written permission. Syndrome, you can make a huge difference to someone’s life – by telling your story. You will be communicating directly with those in a similar situation, who can take strength from how No automatic inclusion I cannot guarantee that your story will be accepted for the book (pdf). There will be various you cope living each day with Klinefelter’s Syndrome. reasons for this. For example, extreme language or descriptions which are far too graphic, will Welcome to ‘The KS Diaries’ be rejected, as individuals as young as 11 could be reading it. I appreciate that you want to get This second book (pdf) will contain histories supplied by people who have Klinefelter’s your story across as you experienced and felt it, but please keep the latter example in mind. Syndrome or in some way are involved with this condition. It is their story; their account of life; The guidelines will give you more details on this. or a moment in time. Non-profit venture Wherever you live on this blue planet, if you feel your Klinefelter’s Syndrome story can make a Like The KS Story, there is no money involved in this second book (pdf); I and story authors difference to others, then please think seriously about contributing. And I’m not just talking will not receive royalties or other rewards, nor is there a fee for inclusion in the book. Also, like about those that have Klinefelter’s Syndrome. You can be a parent, parents-to-be, spouse, the first book, any donations must be sent directly to specific KS support groups and allied partner, brother or sister, grand-parents, friend, healthcare professional or work with children organisations to assist in their educational projects. Do NOT send monies to me. and young adults, and you too can make a huge difference to ease the mind of those in similar Please remember, this book will not happen without people like you! If I don’t receive circumstances. enough interest the book will be shelved – and that’s not a joke. ‘The KS Diaries’ will be dedicated to those courteous people who, through strength of spirit, tell their story in the hope of helping others with Klinefelter’s Syndrome. Got 5 minutes?... I have already received 10 stories and begun to create ‘The KS Diaries’. Please take a moment Guidelines for safely creating & sending your manuscript to read the following pages. I hope they will galvanise you into action, to open your heart and Whether you experience Klinefelter’s Syndrome personally or see KS from a professional tell your own KS Story. viewpoint, if you wish to submit your KS story, it is vital that you please contact me first to Thank you so much. receive guidelines (pdf) in safely creating and sending your manuscript. If you do not do this I cannot include your story. Total anonymity Authors’ stories will NOT include personal names or contact details. Due to this anonymity, and the frank and sensitive nature of some stories, proofs will not be sent to authors for final Iain W McKinlay xxy checking. I will do my utmost to ensure accuracy, but will not be held responsible for errors. Author’s written permission While all stories within the book will be anonymous, I will still need you to include written permission with your manuscript, stating that you are happy to have your story included in the book (pdf), and that includes those authors who have already sent me their manuscripts.

80 81 REFERENCES p11 CONTACTS p74 The KS Story – e not alon You are Like myself, I would imagine that a large It’s a kind of puberty all over again; a Introduction to proportion of these people have had joyous maelstrom of emotions, with social and The KS Diaries times in their life, with loving parents, sexual experimentation; increased body and siblings, spouse/partner, friends, and have facial hair; personal expectations... A book is born and received ten initial manuscripts. I then achieved remarkable things to be proud of. Four years on from my diagnosis, signed off developed another health issue and The KS We often forget that it is the parents work and gathering dust, at the tender age of Diaries was placed on hold. While sadly not for everyone, it is truly and/or spouse/partner who have to be 45, I had the bright idea of utilising the data I inspiring how many people who have been strong and supportive for their loved one had collected from my KS studies to create a The next Booker Prize? bathed in Klinefelter’s presence; who have despite a whirlpool of emotions swirling During my studies into KS I was shocked to small pamphlet for my GP’s practice. It was a run the gauntlet of symptoms, bullying, fear, around in their own head. Physical and read that a substantial percentage of couples way to exercise my brain, keep my graphic self-loathing, surgery and more, emerge emotional changes in the person with KS can around the globe choose termination when design skills honed and give something back (perhaps not a stronger person in their own put a great strain on a family, marriage or given prenatal test results that their child has for all the medical help I was receiving. eyes), more forgiving and able to not only partnership, particularly for older couples Klinefelter’s Syndrome. talk about their experiences but to help who may find it Ydifficult to talk about As contacts in the UK and around the And that dear reader, for all of us with others in need. Y innermost feelings and sexual issues. world began expressing an interest in my Klinefelter’s Syndrome, and for couples on It is never easy to bare your soul, even if As a responsible adult YI thought I could wee venture, the pamphlet took on a life of X the verge of parenthood, for consultants and its own; taking on more subjects and more trying to help; letting closely guarded cope with male hormoneY replacement for those that see us as a waste of space, to emotions into the open.X Some brave souls XXXtherapy. WRONG! No matter your age, life pages. Then it suddenly dawned on me that Y take heed. If only one thing is learnt from X ‘he who can’t spell’ was now writing and are still in pain, yet manage to supportX and experience, sensibilities, responsibilities, go creating The KS Story, it is that we are all X compiling an actually book! advise others. A selfless act of courage• in sailingX out the window when hormones are different – even those with the same anyone’s book. involved• – and those closest to you are I then thought it would be good to break karyotype and that given the opportunity, the Y generally the first to get the flack. up the masses of data with snippits of my vast majority of us are capable of such Nearest and dearest Y own KS tale, hence the title: ‘The KS Story’, amazing feats. Indeed some of the stories I But dealing with a diagnosis of Klinefelter’s There is also the prickly question of but one of my advisors strongly advised read from other people with KS were Syndrome isn’tXX just the preserve of the fertility and how couples cope. Tests; anger; patient. Parents, family members, partner, counselling;XX/X self-doubt; hopelessness;Y it can against mixing facts & figures with personal eloquent, poignant and powerful pieces, X • events. I had also read accounts from other which touched me greatly. spouse, also have to cope with this tear couples apart. But thankfully with love, people and it was brutally clear that my story revelation and the associated aftermath. Ysupport and a degree of give and take, it can Despite academic shortfalls many people also bring themXX closer. And remember, KS would have bored the reader senseless. So XXXX with KS go on to become managers, Whether diagnosis is made prenatally,X in the end I decided that once The KS Story and sterility aren’t carved in stone. executives, teachers; gain higher education during childhood,X adolescence or in was finished I would contact KS support and degrees; start their own businesses. adulthood, parents feel responsible for their Peace of mind Y groups to see if I could access members’ offspring (I’m 58 and 16 stone yet I’m still my Sometimes just knowing that you’re not the stories. And so ‘The KS Diaries’ was Barring acute physical or psychological mother’s wee boy). Even when told the facts only one in the Xworld going through conceived. traits and symptoms that could seriously of Klinefelter’sXY/X Syndrome parents may stillXY/XsomethingX is often a comfort in itself. And affect quality of life, we have as much right blame themselves. when you can read other people’s accounts Here we are again! as any typical person to exist and to In 2005, in the midst of finding a publisher After an amount of time a spouse or of how they reacted and how they dealt with contribute to the world around us. for The KS Story a major contributor and partner almost become one entity; you know a particular situation I think you’ll agree, it supporter of the book suggested that adding Selfless courage each other inside out, you finish each other’s truly brings home just what living with personal histories would immeasurably As the following stories are about sentences, you become comfortable together. Klinefelter’s Syndrome is all about. improve it, and so I tentatively asked for Klinefelter’s Syndrome, most contributors are Then with diagnosis enters hormone stories from UK KS support group members focusing on specific events within a lifetime. replacement therapy and all hell breaks out!

82 83 REFERENCES p11 CONTACTS p74 The KS Story – e not alon You are Closing thoughts own lives; how family, friends and work Tho’ much is taken, much abides; and tho’ colleagues interact and treat them. Locked in We are not now that strength It seems ironic that someone who has such Having read the stories sent to me for their own experiences of life. which in old days difficulty with academia should end up this second book, many of whom have the But often by telling your story it is Moved earth and heaven; working with text. However, as a graphic same karyotype as myself, my story does not somehow comforting, often lifting something that which we are, we are; designer I see the beauty and form of letters, compare. In a world of pain and suffering, out into the open is spiritual, a kind of One equal temper of heroic hearts, words, phrases, from a different angle; a both past and present, to individuals and therapy. And that’s not my words, the latter Made weak by time and fate, technical perspective, as individual entities – social communities, my own KS story is comes from people who have already but strong in will compare and balance the spaces between nothing. It is the pinnacle of the tip of the contributed their KS story. To strive, to seek, to find, and not to yield. them. In some cases, components of a story iceberg in terms of physical and Tennyson, A L. (1908), I will never know. I understand and see the psychological complexity and severity. Whether you look back on 3 score years Poems of Tennyson: Ulysses (part of), true meaning hidden in the characters – and ten or look to the future of adolescence Oxford Edition, Oxford University Press, London. But these pages aren’t about who is Y someone’s education, someone's life, in and adulthood with trepidation, I hope these D worse than the other, but about making shapes. personal accounts have helped to easeY your known the many facets of Klinefelter’s worries; to show that you are infinitely more Y Eyes darting back and forth from Syndrome, no matter what the karyotype, or X than your atypical parts, to motivate and manuscript to monitor, the contributor’s story whether you are the person with KS, a XXX Y encourage you to go outX there and make Y in abstract form. Afraid to miss punctuation, parent, parents-to-be, partner, spouse, X your own unique mark on the world. X afraid to misspell; to, too, bare, bear, never sibling, grandparent, friend... • X X picked out by the spell checker. And ever the Throughout the past 12 years of ill-health, It’s about lifting a child from the darkness • perfectionist, torn whether to change the when I felt burdened by pain,Y self-pity, doubt of loneliness and fear. It’s about shedding Y contributor’s single to double quotes – but and fear for my future, several lines of text light on prejudice and misinformation. stopping short, realising in time that it’s their reinforced myXX will to persevere and gave me content; their learning, their story. It’s also how everyone associated with courage to overcome those glitches in my XX/XY Klinefelter’s Syndrome copes with the life. InX a way the words are also relevant to • A pitifully slow reader all my life, packets diagnosis: guilt, anger, fear, doubt, even a of words are inwardly repeated, filling my us folk associated with Klinefelter’s Y sense of bereavement as treatment begins Syndrome, as individuals and as a social XX head until the computer keys are struck. XXXXX and physical and emotional changes occur community...X Back and forth from manuscript to which, to varying degrees, can affect an monitor; light between the dark, fear and joy individual’s character, perhaps by growing a Y behind the words. beard or by sexual experimentation. XY/X X OK, perhaps not a poet, but I am a But equally it’s about understanding, XY/X X graphic designer to my bones. I trust and love, support, caring. It’s about sharing all revel in my skills as an artist. 43 years of those experiences in the hope that others graphics experience, yet I have no who mirror that life can benefit in some way. confidence selling that work... and I have Many with Klinefelter’s Syndrome never Klinefelter’s Syndrome. tell their own story or discover the stories of others, suffering their lot relative to their

84 85 REFERENCES p11 CONTACTS p74 Disclaimer

The person who created this guide is supplied. However it should be noted that Important: etc., of individuals and groups, which has The Compiler. research is ongoing and facts do change, also Please note, all Further Study contacts been done and approved. have kindly given their approval for inclusion Any person obtaining this guide is subtle differences in research data can occur Where it has been impossible to obtain within that chapter; in writing. The Reader. from various sources, and depending on contact with any Specialist (group or Any individuals or organisations who are which country the information is sought. The inclusion of these contacts are for the individual), and it was felt that the details involved in medicine, research or studies, Besides seeking the editorial advice from convenience of The Reader. The Compiler were vital to that chapter, rather than does not endorse any particular service or support & information or caring etc., are various research individuals and groups, omitting that information, or not The Specialists. product, nor any particular group or The Compiler has generally taken the most individual. He is however, a full member of acknowledging their valuable contribution, widely held view or beliefs on current two British KS support groups. Also, there and having taken serious consideration of To the Reader research. But not everything within these are some contacts within these pages who their privacy; by not including a contact pages is so clear cut. do not endorse The KS Story guide. name, and whereY data used was freely General information: available on the Internet or other media The Compiler is not an expert regarding this Further Study chapter: The Compiler does not take the creationY of (‘Public Domain’), a credit/reference has condition and does not offer medical advice. Please remember, Klinefelter’s Syndrome is a this guide lightly; in that he appreciates that Y X been included. He will also not debate the rights and wrongs highly variable and complex condition (even he is dealing with other people’s lives. Y of any particular medical procedure. Unless in within the same karyotype), and this guide is The Compiler has madeX every effort to offer XXXThe Compiler has, to the best of his ability,Y but an overview. It is up to The Reader to the facts truthfully and to the best of his not knowinglyX plagiarised someone else’s quotes, the content of this book is The X X Compiler’s opinion or assumptions drawn seek their own viewpoint and up-to-date knowledge, and he offers it to The• Reader in work. X from other sources during his own studies. facts, through further study of their own good faith. Y Without• thought of personal or monetary Having absorbed and discussed the ethics, particular condition. No warranty is given on any information Ygain The Compiler offers this guide to risks, advantages etc with your consultant Every effort has been made to check out the herein. The Compiler shall have no liability The Reader. whether direct, indirect, consequential, and/or GP, genetic counsellor and ideally a contacts and supplied details within this XX Further Study chapter: support group, it is for The Reader to choose book and to obtain only reputable sources. special, exemplary, or other damages arising XX/XY therefore; to any person, group or entity, in This guide has been specifically created to the most appropriate course of action. The However, from time to time inter-group X • respect of anything arising from the act as a conduit to The Specialist. All these information contained within The KS Story politics and other situations can arise, and information contained within this guide; Yextracts and contacts are here to assist and is not a substitute for professional health very occasionally a bogus organisation can XX which is for informationXXXX only. X encourage The Reader to seek out such care and is supplied for guidance only. slip through the net creating confusing or X experts, in order to understand their own If The Reader suspects they may have conflicting facts. It is therefore strongly situation relating to Klinefelter’s Syndrome. suggested that The Reader get into the habit To the Contributor Y Klinefelter’s Syndrome, or they know of Important: of verifying the qualifications and experience General information: X someone who may have it, they should In light of the aforementioned efforts; The of individuals and support groups. An idea The Compiler has made every effort to XY/Xobtain contact their GP, an endocrine consultant, or XY/X CompilerXhas produced this book in good of this can be gained from their websites, the relevant text approvals and copyright one of the appropriate Specialists in the faith and he shall have no liability to any from the FAQ or About us links. Try obtaining permissions from all contributors to Further Study chapter, for more information The KS person, group or entity, in respect of relating to their own specific needs. information from two or three groups and Story book, and holds written proof. seek recommendations whenever possible anything arising from the information The Compiler has endeavoured to make this and appropriate. The Compiler has taken advice from research contained within this guide; which is for guide as accurate as possible and every contributors regarding the crediting and information only. effort has been made to verify information referencing of extracts from Specialist papers Copyright © Iain W McKinlay 1999-2010 (UK)

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