DOCSLIB.ORG

JMSCR Volume||2||Issue||7||Page 1626-1646||July 2014 Disorders Of

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
JMSCR Volume||2||Issue||7||Page 1626-1646||July 2014 Disorders Of JMSCR Volume||2||Issue||7||Page 1626-1646||July 2014 2014 www.jmscr.igmpublication.org Impact Factor 1.1147 ISSN (e)-2347-176x Disorders of Sex Development: Molecular Versus Clinical and Cytogenic Studies and Their Correlation with Diagnostic Outcome and Sex of Rearing in A Local Community Authors Manal Mohammed Kadhim (PhD) 1, Mohammed Joudi Aboud (F.IC.M.S) 2 1Medical Microbiology Department , College of Medicine, Al-Qadisiya University, Iraq E-mail: [email protected] 2Pediatric Surgery Unit , Maternity and Child Teaching Hospital, Al-Qadisiya, Iraq E-mail: [email protected] Corresponding Author Mohammed Joudi Aboud (F.I.C.M.S) Pediatric Surgery Unit , Maternity and Child Teaching Hospital, Al-Qadisiya, Iraq Email: [email protected] ABSTRACT BACKGROUND: This study aimed to support clinical professionals in the initial evaluation and diagnosis of children with suspected DSD , to provide a framework to standardize laboratory and clinical practice, and to acquire more knowledge on the molecular mechanism of sex determination . METHODS: This was a single center, prospective case review. A total of 42 patients with DSD were referred to our Pediatric Surgery Unit at the Maternity and Child Teaching Hospital . We examined Barr bodies and karyotype for all patients. PCR amplification was also performed for the detection of SRY and ALT1 gene loci on Y and X chromosomes, respectively. Statistical analyses were performed using SPSS version 20 computer software. RESULTS: A pure 46XX karyotype was identified in 35.7% of cases, while a pure 46XY karyotype was identified in 50% of cases. The SRY locus identified by PCR was tested for its validity in predicting a pure 46XY DSD karyotype. The test was 100% sensitive and 85.7% specific. Among the group of male social sex, the mean internal masculinization score was significantly higher in those with a pure 46XY karyotype (5.9) compared with those with a pure 46XX and those with a mixed karyotype (3.5) . CONCLUSIONS: The management of children with DSD and a lack of diagnostic facilities still remain major challenges in Iraq. Multicenter studies, including larger population sizes, using molecular genetic analyses to detect the actual incidence of genital anomalies and DSD in our Mohammed Joudi Aboud et al JMSCR Volume 2 Issue 7 July 2014 Page 1626 JMSCR Volume||2||Issue||7||Page 1626-1646||July 2014 2014 community, are required to serve these patients and their families. Key words : DSD, polymerase chain reaction, karyotype, diagnostic outcome . BACKGROUND Disorders of sex development (DSDs) are serious This leads to Sertoli cell differentiation, with conditions with a worldwide incidence of 1:5000 subsequent production of Mullerian inhibiting live births. However, in Iraq, there are no accurate substance and regression of the Mullerian ducts data on DSDs. DSD is an important topic in [12,13]. Careful genetic analysis of cases with Islamic countries because of the strong abnormal sexual development, presenting with psychological pressure they impose, such as chromosomal translocations or stigmatization and social exclusion, leading to deletions/duplications, has resulted in the suicide in some cases. The generic term DSD was identification of many genes playing a role in sex proposed and defined as congenital conditions in determination [14]. Polymerase chain reaction which development of chromosomal, gonadal, or (PCR)-based sex determination identified by the anatomical sex is atypical [1-4]. This presence (male) or absence (female) of the SRY nomenclature, which is recommended instead of gene has already been described. This method the word “intersex”, referring primarily to external needs to have an internal control to verify the genital ambiguity, may be confusing in the absence of the SRY gene from the failure of PCR clinical evaluation of patients. amplification [15]. In this study, we used the DSD can serve as an "experiment of ATL1 locus as an internal control. The ATL1 is nature" to decipher the genetic and hormonal the sequence in the FMR1 (fragile X mental components of sex-specific gene expression in retardation 1) gene located on the long arm of the humans. Genetic and hormonal influences on sex X chromosome [16]. extend beyond the reproductive tract, modifying The main objective of this study was to body proportions, hair distribution, gender support clinical professionals in the initial identity, sex-specific behavior, and many other evaluation and diagnosis of children with features that also affect DSD patients clinically in suspected disorders of sex development. We also multiple ways [5-7]. Improved understanding of aimed to provide a framework to standardize the architecture of sex-specific gene expression laboratory and clinical practice, and to review our may also contribute to better clinical assessment experience to provide a simple PCR-based of DSD patients. genomic DNA diagnostic method [17]. We The presence or absence of the Y evaluated the clinical variant, different patterns of chromosome (SRY gene in particular) determines presentation, methods of diagnosis of DSD and to the sex in mammals. The sex-determining region acquire more knowledge on the molecular of the human Y chromosome (SRY) encodes a mechanism of sex determination in Al Qadisiya testes-determining factor, which initiates male sex governorate, Iraq. determination [8-11]. However, this does not exclude the possible effects of other sex genes on METHODS the Y chromosome. If these genes exist, they must be located adjacent to the pseudoautosomal This was a single center, prospective case review. boundary, close to SRY [8]. SRY is hypothesized A total of 42 patients with DSD were referred to our Pediatric Surgery Unit at The Maternity and to function as a transcription factor, triggering a st cascade of gene interactions that induce the Child Teaching Hospital from the 1 of January bipotential fetal gonads to develop into testes. 2008 to the end of May 2012, and all their record Mohammed Joudi Aboud et al JMSCR Volume 2 Issue 7 July 2014 Page 1627 JMSCR Volume||2||Issue||7||Page 1626-1646||July 2014 2014 were analyzed. Diagnosis was set according to min) for initial DNA denaturation, followed by the appearance of external genitalia, cytogenetic 35 cycles of 94°C (15 sec) for DNA denaturation, analysis, and hormonal status Ascertainment of 65°C (20 sec) for primer annealing, and 72°C (20 the gonadal sex and was made based on the sec) for primer extension. A final extension of the inability to determine the sex of the child on a cycle was performed at 72°C for 10 min for the physical examination. The severity of the SRY gene and the same PCR protocol was ambiguity (according to Sinnecker et al.’s performed with a change in annealing classification and Ahmed et al.’s external temperature to 60°C for the ALT1 gene. The masculinization score [EMS]) [18-19] , penile amplified PCR products were separated on 2.5% length (z score according to Gabrich et al.) and agarose gels and stained with ethidium bromide. the degree of severity of virilization of female They were visualized under ultra violet external genitalia were determined by applying transillumination for the presence of a band size the Prader classification [20-21] . A thorough of 254 bp for SRY (Y chromosome) and a band clinical examination, including associated size of 300 bp for ATL1 (X chromosome). The anomalies or dysmorphic features, was A100bp DNA ladder (Bioneer) was included in performed. Routine investigations were requested each run. The sequences of oligonucleotide for all the patients. Barr bodies in buccal smear primers were 5’-CAT GAA CGC ATT CAT cells, karyotype (cytogenic) using two techniques CGT GTG GTC-3’ and 5’-CTG CGG GAA GCA with lymphocyte culture, chromosomal analysis AAC TGC AAT TCT T-3’ for SRY, and 5’-CCC from venous blood sampling, and 20 metaphase TGA TGA AGA ACT TGT ATC TC-3’ and 5’- spreads were studied on the basis of the trypsin- GAA ATT ACA CAC ATA GGT GGC ACT- 3’ Giemsa banding (GTG) technique ( used in for ATL1 [22]. Patients were usually co-managed limited patients ) because such an approach is by pediatricians, clinical immunologists, only available in a special center in the capital pathologists, and radiologists. Written informed and it is expensive. Accordingly and for selected consent was obtained from all the parents for patients we performed an abdominopelvic publication of this article and accompanying ultrasound scan, an abdominopelvic MRI and CT images. The study was approved and authorized scan study, and a voiding cystourethrogram. We by the statistics and archives unit at Al Qadisiya measured serum electrolytes and performed Health Office, the Ministry of Health, Iraq. Data hormonal assays for all patients. Gonadal were translated into a computerized database. biopsies were carried out in selected cases . Expert statistical advice was sought. Statistical We performed PCR amplification for the analyses were performed using SPSS version 20 detection of SRY and ALT1 gene loci on the Y software. and X chromosomes, respectively, in all of the patients at the Medical Microbiology and Clinical RESULTS Immunology Department of Al Qadisiya University. DNA extraction purification was A total of 42 patients met the criteria for DSD. performed by a genomic DNA mini kit from There was a wide variation in age at presentation, whole blood (Geneaid, USA). Each 35-ul PCR ranging from 1 month to 19 years. There was no reaction comprised 5 ul of template DNA obvious or statistically significant difference in solution, 1.5 ul of 25 pmol each of SRY and the mean age between males and females (7 and ATL1 primers, 20 ul of PCR preMix (Bioneer, 6.8 years, respectively) (Table 1). A social label USA), and 12 ul of nuclease-free water. All PCR of male sex was observed in 52.4% of the study reactions were performed in a thermal cycler sample (Table 2).
Load more

Recommended publications
  • Background Briefing Document from the Consortium of Sponsors for The
    BRIEFING BOOK FOR Pediatric Advisory Committee (PAC) Prepared by Alan Rogol, M.D., Ph.D. Prepared for Consortium of Sponsors Meeting Date: April 8th, 2019 TABLE OF CONTENTS LIST OF FIGURES ................................................... ERROR! BOOKMARK NOT DEFINED. LIST OF TABLES ...........................................................................................................................4 1. INTRODUCTION AND BACKGROUND FOR THE MEETING .............................6 1.1. INDICATION AND USAGE .......................................................................................6 2. SPONSOR CONSORTIUM PARTICIPANTS ............................................................6 2.1. TIMELINE FOR SPONSOR ENGAGEMENT FOR PEDIATRIC ADVISORY COMMITTEE (PAC): ............................................................................6 3. BACKGROUND AND RATIONALE .........................................................................7 3.1. INTRODUCTION ........................................................................................................7 3.2. PHYSICAL CHANGES OF PUBERTY ......................................................................7 3.2.1. Boys ..............................................................................................................................7 3.2.2. Growth and Pubertal Development ..............................................................................8 3.3. AGE AT ONSET OF PUBERTY.................................................................................9 3.4.
    [Show full text]
  • EAU Pocket Guidelines on Male Hypogonadism 2013
    GUIDELINES ON MALE HYPOGONADISM G.R. Dohle (chair), S. Arver, C. Bettocchi, S. Kliesch, M. Punab, W. de Ronde Introduction Male hypogonadism is a clinical syndrome caused by andro- gen deficiency. It may adversely affect multiple organ func- tions and quality of life. Androgens play a crucial role in the development and maintenance of male reproductive and sexual functions. Low levels of circulating androgens can cause disturbances in male sexual development, resulting in congenital abnormalities of the male reproductive tract. Later in life, this may cause reduced fertility, sexual dysfunc- tion, decreased muscle formation and bone mineralisation, disturbances of fat metabolism, and cognitive dysfunction. Testosterone levels decrease as a process of ageing: signs and symptoms caused by this decline can be considered a normal part of ageing. However, low testosterone levels are also associated with several chronic diseases, and sympto- matic patients may benefit from testosterone treatment. Androgen deficiency increases with age; an annual decline in circulating testosterone of 0.4-2.0% has been reported. In middle-aged men, the incidence was found to be 6%. It is more prevalent in older men, in men with obesity, those with co-morbidities, and in men with a poor health status. Aetiology and forms Male hypogonadism can be classified in 4 forms: 1. Primary forms caused by testicular insufficiency. 2. Secondary forms caused by hypothalamic-pituitary dysfunction. 164 Male Hypogonadism 3. Late onset hypogonadism. 4. Male hypogonadism due to androgen receptor insensitivity. The main causes of these different forms of hypogonadism are highlighted in Table 1. The type of hypogonadism has to be differentiated, as this has implications for patient evaluation and treatment and enables identification of patients with associated health problems.
    [Show full text]
  • A MRI Diagnosis of Congenital Urogenital Anomalies in 27 Years
    Journal of Advances in Radiology and Medical Imaging Volume 4 | Issue 1 ISSN: 2456-5504 Case Report Open Access A MRI Diagnosis of Congenital Urogenital Anomalies in 27 Years Old Man D’Amato D*, Ranalli T, Tatulli D, Bocchinfuso F, Manenti G, Valente F and Bizzaglia M Diagnostic and Interventional Radiology, Policlinico Tor Vergata, University of Rome “Tor Vergata”, Rome, Italy *Corresponding author: D’Amato D, Diagnostic and Interventional Radiology, Policlinico Tor Vergata, University of Rome “Tor Vergata”, Viale Oxford 181, Rome, Italy, Tel: +393207034690, E-mail: [email protected] Citation: D’Amato D, Ranalli T, Tatulli D, Bocchinfuso F, Manenti G, et al. (2019) A MRI Diagnosis of Congenital Urogenital Anomalies in 27 Years Old Man. J Adv Radiol Med Image 4(1): 102 Received Date: April 04, 2019 Accepted Date: August 26, 2019 Published Date: August 28, 2019 Abstract Congenital anorchia is an uncommon clinical condition. Etiology and pathogenetic mechanisms are often unknown. Although some patients with anorchia present with ambiguous external genitalia or micropenis, most have a normal phenotype. XY Disorders of Sex Development classifications are numerous and success rate in establishing a precise diagnosis is far lower than in XX karyotype. We report the case of a young man, with 46 XY karyotype showing various uro-genital abnormalities. A definitive diagnosis was not established due to the complex clinical presentation. Ultrasonography and Magnetic Resonance Imaging techniques were useful tools in the definition of uro-genital anomalies and gonadal development in this complex scenario. Keywords: Anorchia; Cryptorchidism; Urogenital Anomalies; DSD; MRI List of abbreviations: MRI: Magnetic Resonance Imaging; US: Ultrasonography; DSD: Disorders of Sex Development, FSH: Follicle- Stimulating Hormone; HCG: Human Chorionic Gonadotropin; LH: Luteinizing Hormone; AMH Antimüllerian Hormone; LHRH LH- Releasing Hormone; SD: Standard Deviation Introduction The disorders of sexual differentiation constitute a challenging area for both diagnostic and therapeutic impact.
    [Show full text]
  • DSD Population (Differences of Sex Development) in Barcelona BC N Area of Citizen Rights, Participation and Transparency
    An analysis of the different realities, positions and requirements of the intersex / DSD population (differences of sex development) in Barcelona BC N Area of Citizen Rights, Participation and Transparency An analysis of the different realities, positions and requirements of the intersex / DSD population (differences of sex development) in Barcelona Barcelona, November 2016 This publication forms part of the deployment of the Municipal Plan for Sexual and Gender Diversity and LGTBI Equality Measures 2016 - 2020 Author of the study: Núria Gregori Flor, PhD in Social and Cultural Anthropology Proofreading and Translation: Tau Traduccions SL Graphic design: Kike Vergés We would like to thank all of the respond- ents who were interviewed and shared their knowledge and experiences with us, offering a deeper and more intricate look at the discourses and experiences of the intersex / Differences of Sex Develop- ment community. CONTENTS CHAPTER I 66 An introduction to this preliminary study .............................................................................................................. 7 The occurrence of intersex and different ways to approach it. Imposed and enforced categories .....................................................................................14 Existing definitions and classifications ....................................................................................................................... 14 Who does this study address? ..................................................................................................................................................
    [Show full text]
  • Disorders of Sexual Differentiation and Surgical Corrections
    Marmara Medical Journal Volume 2 No: 5 April 1989 DISORDERS OF SEXUAL DIFFERENTIATION AND SURGICAL CORRECTIONS C. Ôzsoy, M.D.* / A. KadioÇlu, M.D.*** / H. Ander, M.D.** * Professor, Department of Urology, Istanbul Medical Faculty, Istanbul, Turkey. ** Associate Professor, Department of Urology, Istanbul Medical Faculty, Istanbul, Turkey. * * * Research Assistant, Department of Urology, Istanbul Medical Faculty, Istanbul, Turkey. SUMMARY Patients with ambiguous genitalia who applied to our ?). Developments in Cytogenetics and Radio-immu- clinic are investigated and they are classified as true no assay after 1950's provided the easy diagnosis of hermaphroditism, male and female pseudohermaph­ sexual differentiation disorders. roditism. Normal sexual differentiation: The normal human After chromosomal, psychological, hormonal, phe­ diploid cell contains 22 autosomal pairs of chromoso­ notypic and surgical evaluation, the final sex is de­ mes and 2 sex chromosomes. Except spermatozoon termined and appropriate reconstructive surgery is and oocyt normal human cell is diploid. The chromo­ performed. somal sex is determined at the time of fertilization. An XX female or male determined chromosomal sex, In six of our 18 patients we reassigned the female sex influences sexual differentiation by causing the bipo- to male. 2 of our 18 patients are true hermaphrodites tenlial gonad to develop either as a testis or as an (one being male and the other is female). 2 of them are ovary. female pseudohermaphrodites and 14 of them are male pseudohermaphrodites. 6 patients who under­ Until the 7th week of gestation the gonads are indis­ went sexual reassignment were male pseudoher- tinguishable. In the presence of Y chromosome or H- maphrodiles. Y antigen, which is located on the short arm of X chromosome, the medulla of gonads will begin testi­ In our opinion the most important aspect of sex reas­ cular differentiation.
    [Show full text]
  • Medical Histories, Queer Futures: Imaging and Imagining 'Abnormal'
    eSharp Issue 16: Politics and Aesthetics Medical histories, queer futures: Imaging and imagining ‘abnormal’ corporealities Hilary Malatino Once upon a time, queer bodies weren’t pathologized. Once upon a time, queer genitals weren’t surgically corrected. Once upon a time, in lands both near and far off, queers weren’t sent to physicians and therapists for being queer – that is, neither for purposes of erotic reform, gender assignment, nor in order to gain access to hormonal supplements and surgical technologies. Importantly, when measures to pathologize queerness arose in the 19th century, they did not respect the now-sedimented lines that distinguish queernesses pertaining to sexual practice from those of gender identification, corporeal modification, or bodily abnormality. These distinguishing lines – which today constitute the intelligibility of mainstream LGBT political projects – simply did not pertain. The current typological separation of lesbian and gay concerns from those of trans, intersex, and genderqueer folks aids in maintaining the hegemony of homonormative political endeavors. For those of us interested in forging coalitions that are attentive to the concerns of minoritized queer subjects, rethinking the pre-history of these queer typologies is a necessity. This paper is an effort at this rethinking, one particularly focused on the conceptual centrality of intersexuality to the development of contemporary intelligibilities of queerness. It is necessary to give some sort of shape to this foregone moment. It exists prior to the sedimentation of modern Western medical discourse and practice. It is therefore also historically anterior 1 eSharp Issue 16: Politics and Aesthetics to the rise of a scientific doctrine of sexual dimorphism.
    [Show full text]
  • Intersex, Discrimination and the Healthcare Environment – a Critical Investigation of Current English Law
    Intersex, Discrimination and the Healthcare Environment – a Critical Investigation of Current English Law Karen Jane Brown Submitted in Partial Fulfilment of the Requirements of London Metropolitan University for the Award of PhD Year of final Submission: 2016 Table of Contents Table of Contents......................................................................................................................i Table of Figures........................................................................................................................v Table of Abbreviations.............................................................................................................v Tables of Cases........................................................................................................................vi Domestic cases...vi Cases from the European Court of Human Rights...vii International Jurisprudence...vii Tables of Legislation.............................................................................................................viii Table of Statutes- England…viii Table of Statutory Instruments- England…x Table of Legislation-Scotland…x Table of European and International Measures...x Conventions...x Directives...x Table of Legislation-Australia...xi Table of Legislation-Germany...x Table of Legislation-Malta...x Table of Legislation-New Zealand...xi Table of Legislation-Republic of Ireland...x Table of Legislation-South Africa...xi Objectives of Thesis................................................................................................................xii
    [Show full text]
  • Pathogenic Variants in the DEAH-Box RNA Helicase DHX37 Are a Frequent Cause of 46,XY Gonadal Dysgenesis and 46,XY Testicular Regression Syndrome
    ARTICLE © American College of Medical Genetics and Genomics Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome Ken McElreavey, PhD 1, Anne Jorgensen, PhD 2, Caroline Eozenou, PhD1, Tiphanie Merel, MSc1, Joelle Bignon-Topalovic, BSc1, Daisylyn Senna Tan, BSc3, Denis Houzelstein, PhD 1, Federica Buonocore, PhD 4, Nick Warr, PhD 5, Raissa G. G. Kay, PhD5, Matthieu Peycelon, MD, PhD 6,7,8, Jean-Pierre Siffroi, MD, PhD6, Inas Mazen, MD9, John C. Achermann, MD, PhD 4, Yuliya Shcherbak, MD10, Juliane Leger, MD, PhD11, Agnes Sallai, MD 12, Jean-Claude Carel, MD, PhD 11, Laetitia Martinerie, MD, PhD11, Romain Le Ru, MD13, Gerard S. Conway, MD, PhD14, Brigitte Mignot, MD15, Lionel Van Maldergem, MD, PhD 16, Rita Bertalan, MD, PhD17, Evgenia Globa, MD, PhD 18, Raja Brauner, MD, PhD19, Ralf Jauch, PhD 3, Serge Nef, PhD 20, Andy Greenfield, PhD5 and Anu Bashamboo, PhD1 Purpose: XY individuals with disorders/differences of sex devel- specifically associated with gonadal dysgenesis and TRS. opment (DSD) are characterized by reduced androgenization Consistent with a role in early testis development, DHX37 is caused, in some children, by gonadal dysgenesis or testis regression expressed specifically in somatic cells of the developing human during fetal development. The genetic etiology for most patients and mouse testis. with 46,XY gonadal dysgenesis and for all patients with testicular Conclusion: DHX37 pathogenic variants are a new cause of an regression syndrome (TRS) is unknown. autosomal dominant form of 46,XY DSD, including gonadal Methods: We performed exome and/or Sanger sequencing in 145 dysgenesis and TRS, showing that these conditions are part of a individuals with 46,XY DSD of unknown etiology including clinical spectrum.
    [Show full text]
  • Orphanet Report Series Rare Diseases Collection
    Marche des Maladies Rares – Alliance Maladies Rares Orphanet Report Series Rare Diseases collection DecemberOctober 2013 2009 List of rare diseases and synonyms Listed in alphabetical order www.orpha.net 20102206 Rare diseases listed in alphabetical order ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 289157 1-alpha-hydroxylase deficiency 309127 3-hydroxyacyl-CoA dehydrogenase 228384 5q14.3 microdeletion syndrome deficiency 293948 1p21.3 microdeletion syndrome 314655 5q31.3 microdeletion syndrome 939 3-hydroxyisobutyric aciduria 1606 1p36 deletion syndrome 228415 5q35 microduplication syndrome 2616 3M syndrome 250989 1q21.1 microdeletion syndrome 96125 6p subtelomeric deletion syndrome 2616 3-M syndrome 250994 1q21.1 microduplication syndrome 251046 6p22 microdeletion syndrome 293843 3MC syndrome 250999 1q41q42 microdeletion syndrome 96125 6p25 microdeletion syndrome 6 3-methylcrotonylglycinuria 250999 1q41-q42 microdeletion syndrome 99135 6-phosphogluconate dehydrogenase 67046 3-methylglutaconic aciduria type 1 deficiency 238769 1q44 microdeletion syndrome 111 3-methylglutaconic aciduria type 2 13 6-pyruvoyl-tetrahydropterin synthase 976 2,8 dihydroxyadenine urolithiasis deficiency 67047 3-methylglutaconic aciduria type 3 869 2A syndrome 75857 6q terminal deletion 67048 3-methylglutaconic aciduria type 4 79154 2-aminoadipic 2-oxoadipic aciduria 171829 6q16 deletion syndrome 66634 3-methylglutaconic aciduria type 5 19 2-hydroxyglutaric acidemia 251056 6q25 microdeletion syndrome 352328 3-methylglutaconic
    [Show full text]
  • Smallness, Turner's Syndrome, and Other Complaints J
    Arch Dis Child: first published as 10.1136/adc.46.250.745 on 1 December 1971. Downloaded from Archives of Disease in Childhood, 1971, 46, 745. Effect of Human Growth Hormone Treatment for 1 to 7 Years on Growth of 100 Children, with Growth Hormone Deficiency, Low Birthweight, Inherited Smallness, Turner's Syndrome, and Other Complaints J. M. TANNER, R. H. WHITEHOUSE, P. C. R. HUGHES, and F. P. VINCE* From the Department of Growth and Development, Institute of Child Health, University of London, and Department of- Metabolism and Endocrinology, The London Hospital Tanner, J. M., Whitehouse, R. H., Hughes, P. C. R., and Vince, F. P. (1971). Archives of Disease in Childhood, 46, 745. Effect of human growth hormone treatment for 1 to 7 years on growth of 100 children, with growth hormone deficiency, low birthweight, inherited smallness, Turner's syndrome, and other complaints. (1) Human growth hormone (HGH) has been given for one whole year or longer to 100 patients, aged 1 5 to 19 years, participating in the Medical Research Council Clinical Trial of HGH. Each patient was measured 3-monthly for a control year before treatment, and the majority for a control year after the first treatment year. All measurements were made by one anthropometrist. Radiographic measurements of widths of bone, muscle, and fat in calf and upper arm copyright. were made. Methods and standards for assessing the significance of a given height acceleration are presented. (2) The characteristics at diagnosis are given of 35 patients with isolated GH deficiency or hyposomatotrophism (HS), 18 with craniopharyngiomas and other CNS lesions, 3 with multiple trophic hormone deficiency, 18 with low birthweight short stature, 4 with hereditary smallness and/or delay in growth, 4 with psychosocial short stature, 1 with high resting HGH and low somatomedin, 6 with Turner's syndrome, and 11 with other diagnoses.
    [Show full text]
  • EAU-Guidelines-On-Paediatric-Urology-2019.Pdf
    EAU Guidelines on Paediatric Urology C. Radmayr (Chair), G. Bogaert, H.S. Dogan, R. Kocvara˘ , J.M. Nijman (Vice-chair), R. Stein, S. Tekgül Guidelines Associates: L.A. ‘t Hoen, J. Quaedackers, M.S. Silay, S. Undre European Society for Paediatric Urology © European Association of Urology 2019 TABLE OF CONTENTS PAGE 1. INTRODUCTION 8 1.1 Aim 8 1.2 Panel composition 8 1.3 Available publications 8 1.4 Publication history 8 1.5 Summary of changes 8 1.5.1 New and changed recommendations 9 2. METHODS 9 2.1 Introduction 9 2.2 Peer review 9 2.3 Future goals 9 3. THE GUIDELINE 10 3.1 Phimosis 10 3.1.1 Epidemiology, aetiology and pathophysiology 10 3.1.2 Classification systems 10 3.1.3 Diagnostic evaluation 10 3.1.4 Management 10 3.1.5 Follow-up 11 3.1.6 Summary of evidence and recommendations for the management of phimosis 11 3.2 Management of undescended testes 11 3.2.1 Background 11 3.2.2 Classification 11 3.2.2.1 Palpable testes 12 3.2.2.2 Non-palpable testes 12 3.2.3 Diagnostic evaluation 13 3.2.3.1 History 13 3.2.3.2 Physical examination 13 3.2.3.3 Imaging studies 13 3.2.4 Management 13 3.2.4.1 Medical therapy 13 3.2.4.1.1 Medical therapy for testicular descent 13 3.2.4.1.2 Medical therapy for fertility potential 14 3.2.4.2 Surgical therapy 14 3.2.4.2.1 Palpable testes 14 3.2.4.2.1.1 Inguinal orchidopexy 14 3.2.4.2.1.2 Scrotal orchidopexy 15 3.2.4.2.2 Non-palpable testes 15 3.2.4.2.3 Complications of surgical therapy 15 3.2.4.2.4 Surgical therapy for undescended testes after puberty 15 3.2.5 Undescended testes and fertility 16 3.2.6 Undescended
    [Show full text]
  • Changing the Nomenclature/Taxonomy for Intersex: a Scientific and Clinical Rationale
    © Freund Publishing House Ltd., London Journal of Pediatric Endocrinology & Metabolism, 18, 729-733 (2005) Changing the Nomenclature/Taxonomy for Intersex: A Scientific and Clinical Rationale Alice D. Dreger1, Cheryl Chase2, Aron Sousa3, Philip A. Gruppuso4 and Joel Frader5 'Program in Medical Humanities and Bioethics, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA, 2 Intersex Society of North America, Rohnert Park, CA, USA, 3 Department of Medicine, Michigan State University, East Lansing, MI, USA, 4 Department of Pediatrics, Rhode Island Hospital and Brown University, Providence, RI, USA, 5Pediatrics, Children's Memorial Hospital and Department of Pediatrics and Program in Medical Humanities and Bioethics, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA ABSTRACT INTRODUCTION We explain here why the standard division of We present scientific and clinical problems many intersex types into true hermaphroditism, associated with the language used in the existing male pseudohermaphroditism, and female pseudo- division of intersex types, in order to stimulate hermaphroditism is scientifically specious and interest in developing a replacement taxonomy for clinically problematic. First we provide the intersex conditions. The current tripartite division history of this tripartite taxonomy and note how of intersex types, based on gonadal tissue, is the taxonomy predates and largely ignores the illogical, outdated, and harmful. A new typology, modern sciences of genetics and endocrinology. based on
    [Show full text]