DOCSLIB.ORG

Disorders of Sexual Differentiation and Surgical Corrections

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read 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. In the presence of XX chromo­ signment is psycho - sexual character. Phenotypic, somal pattern the gonads are destined to be an ovary. chromosomal or gonadal sex are of secondary impor­ The appearance of Sertoli cells is the earliest recogni­ tance in determining the final sex. zable event in testicular organogenesis. Lcydig cells are apparent about at the 8th week of gestation. Key words: Intcrscx-reassignment of the sex-treat­ ment In the absence of Y chromosome and H-Y antigen, if the zygote is XX after fertilization, the gonad diffe­ INTRODUCTION rentiates as an ovary. A significant number of germ Historically the term ambiguity of the external geni­ cells enter mciotic prophase to characterize the tran­ talia was known in the old Persia, Babel and Mesopo­ sition of oogonia into oocyts, which marks the onset tamia. Afterwards the bisexual god Hermaphrodilos of ovarian differentiation from the undifferentiated appeared in the Greck-mitos, and this term is still be­ gonads. ing used for people with ambiguous external genita­ lia. The normal fetus is equipped with miillcrian and wolffian ducts. The wolffian ducts have a potential of The first reports about ambiguous genitalia and its differentiating into the epididymis, vas deferens, se­ treatment were written by Turkish scientists Ibni Si- minal vesicles and ejaculatory ducts. The miillerian na (Avicenna 930-1037) and Sharaf cd-Din (1465- ducts form the uterine tubes, the uterus, and the upper 42 Mannar« Medical Journal Volume 2 No: 5 April 1989 third of the vagina. male types such as pure gonadal dysgenesis and mixed gonadal dysgenesis arc also described (4,5,6). In the presence of a testis, the miillcrian ducts involu­ Klinefelter syndrome, also known as seminiferous te under the influence of miillerian duct inhibitory tubule dysgenesis is one of the most common causes factor, a nonstcroid macromolecule secreted by Ser­ of infertility in males (7). The variants of this syndro­ toli cells. In the presence of an ovary or in the absence me have at least two X chromosomes. Variants such of a functional testis,-mUllcrian duct differentiation as XXX Y and XXYY arc also described. Azoosper­ occurs. mia, hypogonadism, small firm testes, gynecomastia are present. Differentiation of the external genitalia in males de­ pends on the action of testosterone and particularly True Hermaphroditism: dihydrotestosterone, the 5 alpha reduced metabolite True hermaphrodites have both ovarian and testicu­ of testosterone (1). Dihydrotestosterone stimulates lar tissue present in cither the same or opposite go­ the growth of the genital tubercle, fusion of the ureth­ nads. The ovoteslis is the most common gonad found ral folds and descent of the labioscrotal swellings to in true hermaphroditism. The external genitalia may form the penis and scrotum. simulate those of a male or female and inguinal her­ nia is usually present, and may contain a testis or an Impairment in the synthesis or secretion of fetal tes­ ovary. tosterone or its conversion into dihydrolcslostcronc, deficient or defective androgen receptor activity, or The differentiation of the internal genitalia usually defective production and local action of miillcrian follows the pattern expected for the gonads present. duct inhibitory factor cause to incomplete masculini- In patients with an ovotestes the female aspects of the zation of the male Ictus (1). internal duct development arc usually preserved. 60 % of true hermaphrodites have 46 XX karyotype. 46 There is an inherited tendency for the urogenital si­ XX+XY karyotype is also not infrequent. Hcraphro- nus to develop along female lines. The genital tuberc­ dilismus vera may result from mosaicism, cltime- le becomes the clitoris. The caudal part of the uroge­ rism, Y to X chromosome translocation or an autoso­ nital sinus forms the 2/3 lower part of the vagina. The mal mutant gene. urethral folds remain separate as the labia minora and the genital swellings form the labia majora. Male Pseudohermaphroditism: Male pseudohermaphrodites have gonads that are The adrenal steroidogenesis defect in the female cau­ testes and have X Y karyotype. The external genitalia ses an increase in the adrenal originated androgens in are not completely masculinized. Male pseudoher­ congenital adrenal hyperplasia and virilization (2). maphroditism may result from testicular agenesia, Androgen deficiency in the male fetus and increased testicular hypoplasia, failure in testosterone biosyn­ androgen levels in the female form ambiguous geni­ thesis or failure of target tissue response to androgen talia. Ambiguous genitalia also occurs due to anoma­ (androgen receptor disorders). » lies, chromosomal or genital disorders. Complete Testicular Feminization: Abnormal Sex differentiation can be classified as fol­ This type is characterized by female appearing exter­ lows: nal genitalia,a blind vaginal pouch, bilateral inguinal or abdominal testes, inguinal hernia and absent miil­ Gonadal differentiation disorders: lcrian dérivâtes. The patients are raised as females. Most of the gonadal differentiation disorders also At the puberty some of the patients may exhibite mild known as chromosomal disorders, which cause am­ virilisation and most of them have aincnorhea (8). biguity of external genitalia are the result of anomali­ es in sex chromosomes (3). Androgen resistance in target organs or presence of Meiotic nondisjunclion of the zygote or misfolding abnormal receptors characterize this sydromc. The of germinal cells during spermatogenesis or oogene­ scrum androgen levels are normal. Orchiectomy is sis cause gonadal disorders. Turner and Klinefelter indicated because of the increased risk of gonadal ne­ syndromes are examples of gonadal differentiation oplasms. Thereafter estrogen replacement is neces­ disorders. sary. Inheritance in all forms appears to be X lin­ ked. Apart from the classical type of Turner syndrome, 43 Mannara Medical Journal Volume 2 No: 5 April 1989 Incomplete Testicular Feminization: The masculinizalion of external genitalia is incomp­ It is inherited in autosomal recessive manner. In the lete. The labio-scrotal fusion is not complete and male the phallus may be enlarged. These patients can wolffian duct derivatives are also partially present. sh Gilbert Dreyfus and Reifenstein described patients It is inherited in autosomal recessive manner. In the with small phallus, hypospadias and pubertal.gyne­ male the phallus may be enlarged. These patients can comastia (9). The psychological sex character and show cortisol and aldosterone deficiency. The treat­ external genitalia influence the determination of ma­ ment of female pseudohermaphrodites depends on le sex character. the degree of virilization. In mildly virilized patients, steroid replacement and clitoridectomy is indicated Perineoscrotal-pseudovaginal hypospadias: is and in heavily virilized patients vaginoplasty is indi­ due to defective conversion of testosterone to dihy- cated. The male pattern requires only glucocorticoid drotestostcrone in the absence of 5 alpha-reductase. therapy. The external genitalia are not virilized. A blind vagi­ nal pouch is present. The miillerian structures are MATERIALS AND METHODS present. Serum testosterone level is normal, but dihy- 18 patients, with ambiguous genitalia, who applied to drolestosterone level is low. Istanbul Medical Faculty clinics, are discussed in this study. The patients are evaluated by age factor, geni­ Female Pseudohermaphroditism: tal examination, hormonal analysis, chromosomal a- These individuals have 46 XX karyotype and normal nalysis, psychosexual character, radiological
Load more

Recommended publications
  • 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]
  • 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]
  • 0702 Biopsychosocialerkek Yalanc.Indd
    Türk Psikiyatri Dergisi 2007; 18(2) Turkish Journal of Psychiatry Biopsychosocial Variables Associated With Gender of Rearing in Children With Male Pseudohermaphrodi sm Runa USLU, Didem ÖZTOP, Özlem ÖZCAN, Savaş YILMAZ, Merih BERBEROĞLU, Pelin ADIYAMAN, Murat ÇAKMAK, Efser KERİMOĞLU, Gönül ÖCAL Abstract Objective: The effect of parental rearing on gender identity development in children with ambiguous genitalia remains controversial. The present study aimed to address this issue by investigating the factors that may be associated with sex of rearing in children with male pseudohermaphroditism. Method: The study included 56 children with male pseudohermaphroditism that were consecutively referred to a child psychiatry outpatient clinic. At the time of referral the age range of the sample was 6 months-14 years; 28 children had been raised as boys and 28 as girls. Demographic and biological information was obtained from patient charts. An intersex history interview was administered to the children and parents, whereas The Gender Identity Interview and the Draw-A-Person Test were administered only to the children. The children were observed during free play. Comparisons of biological, psychological and social variables were made with respect to gender of rearing. Results: More children reared as boys were younger at time of referral, belonged to extended families, and had higher Prader scores. Although children’s gender roles were appropriate for their gender of rearing, findings of the Gender Identity Interview and the Draw-A-Person Test suggested that some of the girls presented with a male or neutral gender self-perception. Conclusion: The relationships between age at the time of problem identification, age at the time of diagnosis, and gender of rearing indicate the importance of taking measures to ensure that the intersex condition is identified at birth and children are referred for early diagnosis, gender assignment, and treatment.
    [Show full text]
  • Complete Androgen Insensitivity Syndrome: Review of Four Cases
    Cent. Eur. J. Med. • 7(6) • 2012 • 729-732 DOI: 10.2478/s11536-012-0053-5 Central European Journal of Medicine Complete Androgen Insensitivity Syndrome: Review of Four Cases Case Report Dusanka S. Dobanovacki*1, Radoica R. Jokic1 Nada Vuckovic2, Jadranka D. Jovanovic Privrodski1, Dragan J. Katanic1, Milanka R. Tatic1, Sanja V. Skeledzija Miskovic1, Ivana I. Kavecan1 1 1 Institute for Children and Youth Health Care of Vojvodina Hajduk Veljkova 10 21 000 Novi Sad Serbia 2 Center for Pathology and Histology, Clinical Center of Vojvodina Hajduk Veljkova 3 21 000 Novi Sad Serbia Received 24 April 2012; Accepted 14 June 2012 Abstract: Background: The Detection of the Complete Androgen Insensitivity Syndrome is not simple since diagnostic can start from different points, depending on clinical features. Case Presentation: Four cases of complete androgen insensitivity syndrome are presented through diagnostic modalities and therapeutic approaches. The initial reasons for investigation were as follows: prenatal amniocentesis being in conflict with the postnatal phenotype, secondary clinical finding, testicle finding during hernia repair, and post pubertal primary amenorrhea. Complete chromosomal, hormonal and ultrasonographical investigations were performed in all patients. Laparoscopy or open inguinal approaches were performed for gonadectomy in all patients, and the microscopic finding was testicular tissue without malignancy. Conclusion: Complete Androgen Insensitivity Syndrome is a type of male pseudohermaphroditism that could be diagnosed as early as in pre-adult age, before any malignant changes appear, and early enough to reach the correct therapy in time. Keywords: Androgen Insensitivity Syndrome • Male Pseudohermaphroditism • Amenorrhea • Hernia © Versita Sp. z o.o The authors have no conflict of interest.
    [Show full text]
  • 910. Ida Bagus Andhita Male Pseudohermaphroditism 236-.P65
    Paediatrica Indonesiana VOLUME 46 September - October • 2006 NUMBER 9-10 Case Report Male pseudohermaphroditism due to 5-alpha reductase type-2 deficiency in a 20-month old boy Ida Bagus Andhita, Wayan Bikin Suryawan ntersex conditions are the most fascinating con- paper reports a 20-month old patient with male ditions encountered by clinicians. The ability pseudohermaphroditism due to 5-alpha reductase to diagnose infants born with this disorder has type-2 deficiency. Iadvanced rapidly in recent years. In most cases, clinicians can promptly make an accurate diagnosis and give the advice to the parents on therapeutic Report of the case options. Intersex conditions traditionally have been divided into the following 5 simplified classifications A 20-month old ”girl”, came to the outpatient clinic based on the differentiation of the gonad, i.e. 1) fe- of the Department of Child Health, Sanglah Hospi- male pseudohermaphrodite characterized by two tal, Denpasar, with the chief complaint of a bump on ovaries, 2) male pseudohermaphrodite characterized the urinary duct noted since three months before ad- by two testes, 3) true hermaphrodite characterized mission. The urination and defecation were normal. by ovary and or testis and or ovotestis, 4) mixed go- History of pregnancy and delivery were normal. There nadal dysgenesis characterized by testis plus streak was no history of the same condition among the fam- gonad, and 5) pure gonadal dysgenesis characterized ily. No history of oral contraceptive, alcohol intake, by bilateral streak gonads.1-3 hormonal, or traditional medication during pregnancy. 5-alpha-reductase (5-ARD) type 2 deficiency His growth and development were normal.
    [Show full text]
  • Physical, Behavioral, Endocrinologic, and Cytogenetic Evaluation Of
    Physical, behavioral, endocrinologic, and cytogenetic evaluation of two Standardbred racehorses competing as mares with an intersex condition and high postrace serum testosterone concentrations Marc G. Knobbe, DVM, MPH, DACT; Cindy Maenhoudt, DVM, DACT; Regina M. Turner, VMD, PhD, DACT; Sue M. McDonnell, PhD EQUINE Case Description—2 Standardbred racehorses that had been winning races while compet- ing as mares underwent postrace drug testing and had serum testosterone concentrations above the acceptable limit for female racehorses. Clinical Findings—Initial physical examinations by the referring veterinarian revealed ambiguous external genitalia and suspected intra-abdominally located testes leading to a preliminary diagnosis of male pseudohermaphroditism. Horses were referred for further evaluation of sex. Physical examination of the external genitalia confirmed the findings of the referring veterinarian. Transrectal palpation and ultrasonography revealed gonads with an ultrasonographic appearance of testes. On cytogenetic analysis, both horses were de- termined to have a 64,XY karyotype and 8 intact Y chromosome markers and 5 SRY gene markers, which were indicative of a genetic male and confirmed an intersex condition. Ad- ditionally, both horses had some male-type behavior and endocrinologic findings consistent with those of sexually intact males. Treatment and Outcome—Taken together, these findings confirmed that both horses were male pseudohermaphrodites. Both horses returned to racing competition as males. Clinical Relevance—As of October 1, 2008, the Pennsylvania Horse and Harness Racing Commissions implemented a postrace drug testing policy that included analysis of blood samples for anabolic and androgenic steroids and set maximum allowable concentrations of testosterone for racing geldings and females. Within 8 months of initiation of this drug testing policy, the 2 horses of this report were identified as having an intersex condition.
    [Show full text]
  • Clinical, Genetic, and Pathological Features of Male
    Bigliardi et al. Reproductive Biology and Endocrinology 2011, 9:12 http://www.rbej.com/content/9/1/12 METHODOLOGY Open Access Clinical, genetic, and pathological features of male pseudohermaphroditism in dog Enrico Bigliardi1*, Pietro Parma3, Paolo Peressotti2, Lisa De Lorenzi3, Peter Wohlsein4, Benedetta Passeri1, Stefano Jottini1, Anna Maria Cantoni1 Abstract Male pseudohermaphroditism is a sex differentiation disorder in which the gonads are testes and the genital ducts are incompletely masculinized. An 8 years old dog with normal male karyotype was referred for examination of external genitalia abnormalities. Adjacent to the vulva subcutaneous undescended testes were observed. The histology of the gonads revealed a Leydig and Sertoli cell neoplasia. The contemporaneous presence of testicular tissue, vulva, male karyotype were compatible with a male pseudohermaphrodite (MPH) condition. Background and among them Sox9, Wnt4 and Rspo1 seems to play a Mammalian sexual development depends on the suc- major role [1]. cessful completion of a series of steps under genetic and Abnormal sex development could derive from sex hormonal control. This process requires the accomplish- determination errors (i.e. discordance between chromo- ment of three steps: chromosomal sex, gonadal sex and somal and gonadic sex) or from discordance from gona- phenotypic sex. At fertilization the chromosomal sex is dal and phenotypic sex (i.e. errors in sex differentiation determined and successively XY embryos will develop process). In the first case the affected animals are testes whereas XX ones will develop ovaries (gonadal referred as sex reversal, whereas in the second one they sex). The process regulating gonadal development is are called pseudohermaphrodites. under genetic control and is referred as sex determina- In small animals there are four principal categories of tion.
    [Show full text]
  • Clinical Guidelines
    Contributors Erin Anthony Kimberly Chu, LCSW, DCSW CARES Foundation, Millburn, NJ Department of Child & Adolescent Psychiatry, Mount Sinai Medical Center, New York, NY Cassandra L. Aspinall MSW, LICSW Craniofacial Center, Seattle Children’s Hospital; Sarah Creighton, MD, FRCOG University of Washington, School of Social Gynecology, University College London Work, Seattle, WA Hospitals, London, UK Arlene B. Baratz, MD Jorge J. Daaboul, MD Medical Advisor, Androgen Insensitivity Pediatric Endocrinology, The Nemours Syndrome Support Group, Pittsburgh, PA Children’s Clinic, Orlando, FL Charlotte Boney, MD Alice Domurat Dreger, PhD (Project Pediatric Endocrinology and Metabolism, Rhode Coordinator and Editor) Island Hospital, Providence, RI Medical Humanities and Bioethics, Feinberg School of Medicine, Northwestern University, David R. Brown, MD, FACE Chicago, IL Pediatric Endocrinology and Metabolism; Staff Physician, Children’s Hospitals and Clinics of Christine Feick, MSW Minnesota, Minneapolis, MN Ann Arbor, MI William Byne, MD Kaye Fichman, MD Psychiatry, Mount Sinai Medical Center, New Pediatric Endocrinology, Kaiser Permanente York, NY Medical Group, San Rafael, CA David Cameron Sallie Foley, MSW Board of Directors, Intersex Society of North Certified Sex Therapist, AASECT; Dept. Social America, San Francisco, CA Work/Sexual Health, University of Michigan Health Systems, Ann Arbor, MI Monica Casper, PhD Medical Sociology, Vanderbilt University, Joel Frader, MD, MA Nashville, TN General Academic Pediatrics, Children’s Memorial Hospital;
    [Show full text]
  • Intersex Genital Mutilations Human Rights Violations of Children with Variations of Sex Anatomy
    v 2.0 Intersex Genital Mutilations Human Rights Violations Of Children With Variations Of Sex Anatomy NGO Report to the 2nd, 3rd and 4th Periodic Report of Switzerland on the Convention on the Rights of the Child (CRC) + Supplement “Background Information on IGMs” Compiled by: Zwischengeschlecht.org (Human Rights NGO) Markus Bauer Daniela Truffer Zwischengeschlecht.org P.O.Box 2122 8031 Zurich info_at_zwischengeschlecht.org http://Zwischengeschlecht.org/ http://StopIGM.org/ Intersex.ch (Peer Support Group) Daniela Truffer kontakt_at_intersex.ch http://intersex.ch/ Verein SI Selbsthilfe Intersexualität (Parents Peer Support Group) Karin Plattner Selbsthilfe Intersexualität P.O.Box 4066 4002 Basel info_at_si-global.ch http://si-global.ch/ March 2014 v2.0: Internal links added, some errors and typos corrected. This NGO Report online: http://intersex.shadowreport.org/public/2014-CRC-Swiss-NGO-Zwischengeschlecht-Intersex-IGM_v2.pdf Front Cover Photo: UPR #14, 20.10.2012 Back Cover Photo: CEDAW #43, 25.01.2009 2 Executive Summary Intersex children are born with variations of sex anatomy, including atypical genetic make- up, atypical sex hormone producing organs, atypical response to sex hormones, atypical geni- tals, atypical secondary sex markers. While intersex children may face several problems, in the “developed world” the most pressing are the ongoing Intersex Genital Mutilations, which present a distinct and unique issue constituting significant human rights violations (A). IGMs include non-consensual, medically unnecessary, irreversible, cosmetic genital sur- geries, and/or other harmful medical treatments that would not be considered for “normal” children, without evidence of benefit for the children concerned, but justified by societal and cultural norms and beliefs.
    [Show full text]
  • Penile Agenesis: Report on 8 Cases and Review of Literature
    Iran J Pediatr Case Report Jun 2009; Vol 19 (No 2), Pp:173-179 Penile Agenesis: Report on 8 Cases and Review of Literature Alireza Mirshemirani*1, MD; Ahmad Khaleghnejad1, MD; Hoshang Pourang2, MD; Naser Sadeghian1, MD; Mohsen Rouzrokh1, MD; Shadab Salehpour3, MD 1. Pediatric Surgery Research Center, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran 2. Department of Pediatric Surgery, Tehran University of Medical Sciences, Tehran, IR Iran 3. Department of Pediatrics, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran Received: Jun 27, 2008; Final Revision: Dec 01, 2008; Accepted: Jan 14, 2009 Abstract Background: Penile agenesis (PA) is an extremely rare anomaly with profound urological and psychological consequences. The opening of the urethra could be either over the pubis or at any point on perineum or most frequently in anterior wall of the rectum. The aim of treatment is an early female gender assignment and feminizing reconstruction of the perineum. Case(s) Presentation: We report 8 cases of penile agenesis with urination and defecation through the rectum, apparently normal scrotum, bilateral descended testis, normally located anus, urethral opening in anus, 46XY karyotype and associated anomalies. In 2 cases parents refused any surgical interventions, but in 6 cases we did perform different operations (transforming five cases to females and one case to male gender). Conclusion: We recommend feminizing operations in newborns or infants, but in older patients, regarding the child's psychology, it is advised to perform masculinizing operations, and finally, no surgical intervention should be undertaken before counseling the parents. Iranian Journal of Pediatrics, Volume 19 (Number 2), June 2009, Pages: 173­179 Key Words: Aphallia; Penile agenesis; Reconstruction; Ambiguous genitalia Introduction anomaly [1,2].
    [Show 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.
    [Show full text]
  • Sept-Oct 08 Report.Qxp
    as pathological, or could it mark an important advance in the treatment of the underlying conditions so frequently associ- ated with gender-atypical bodies? To what extent should we support and make use of the term in our ongoing critical work? One of us initially eschewed it, feeling it left intersex conditions fully medicalized.2 But our experience with par- ents and doctors also led us to acknowledge the limitations of the current labels, whose mere utterance could be fighting What’s in a Name? words. Struggling with the host of competing stakes, we fi- nally found ourselves in a curious and at times uncomfort- able position: critics of medicalization arguing in favor of its The Controversy over benefits. Tracing the history of the terminology applied to those “Disorders of Sex with atypical sex anatomy reveals how these conditions have been narrowly cast as problems of gender to the neglect of broader health concerns and of the well-being of affected in- Development” dividuals. By raising the possibility of rethinking what counts as a medical concern, the new terminology can help to refo- cus medical care on lifelong health; it could thus not only contribute to improving medical care but also to promoting attention to affected individuals’ quality of life. Development of Terminology BY ELLEN K. FEDER AND KATRINA KARKAZIS or centuries, people with atypical sex anatomy have been Flabeled hermaphrodite.3 By the late nineteenth century, a consensus emerged in medicine that gonadal histology was or a decade now, the two of us have taken a critical the most reliable marker of a person’s “true sex” and that stance toward the medical treatment of children with there were three classificatory types of hermaphroditism: intersex conditions.
    [Show full text]