The KS Story
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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, for their love, support and understanding by an individual with The KS Story guide is dedicated to: Klinefelter’s Syndrome (XXY). The KS Story is not mine alone, m y f a m i l y but a fusion of knowledge and Klinefelter, Harry F. Jr., MD;Harry Reifenstein, Fitch Klinefelter Edward C. Jr.,Jr MD; Albright, Fuller MD, experience offered by the latter ‘Syndrome characterised by Gynaecomastia, Aspermatogenesis without A-Leydigism and increased excretion of Follicle Stimulating Hormone’ xxx dedicated and compassionate The Journal of Clinical Endocrinology & Metabolism, people who have contributed to The Alan Mason Chesney Medical Archives of the Johns Hopkins Medical Institutions. its content. Image courtesy of 2:615-27, 1942. , This informative guide is offered primarily as a conduit to the above people, to whom you should direct all enquiries for the most appropriate 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 Patricia A Jacobs OBE ‘A case of human intersexualityJacobs, having P. A. and a possible Strong, sex-determining J. A. mechanism’ Nature, Lond. Story 183:302-303, 1959. Image kindly supplied by Prof P A Jacobs. You are not , alone 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.