Penile Agenesis: Report on 8 Cases and Review of Literature
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Case Report Full Text Online At
Case Report Full text online at http://www.jiaps.com Penile agenesis A. K. Bangroo, Ramji Khetri, Sashi Tiwari St Stephen's Hospital, Tis Hazari, Delhi Correspondence: AK Bangroo, 103, Administrative block, St. Stephens Hospital, Tis Hazari, Delhi-110054, India. E-mail: [email protected] ABSTRACT Penile agenesis is an extremely rare disorder with profound urological and psychological consequences. The goal of treatment is an early female gender assignment and feminizing reconstruction of the perineum. KEY WORDS: Aphallia, Penile agenesis, Ambiguous genitalia Penile agenesis (PA) is an extremely rare developmental the scrotal folds which were preserved for subsequent anomaly with the reported incidence of 1 in 30 million genital reconstruction. births[1]. PA is believed to result from either the absence of the genital tubercle, or its failure to develop.[2] Several DISCUSSION investigators claim the absence of corpora cavernosa and corpora spongiosum as a prerequisite for the diagnosis of The earliest case report of aphallia was by Imminger in penile agenesis.[3] Except for the reported XX-XY mosaic, 1853[2] since then only 75 cases have been reported in the patients have 46 XY karyotypes.[4] More than half of these literature[6]. Skoog and Belman[5] suggested three variants, have associated anomalies, including developmental de based on urethral position in relationship to the anal fects of the caudal axis, genitourinary and gastrointestinal sphincter, as: Postsphincteric; Presphincteric tract anomalies.[5] The scrotum, testes and testicular func (Prostatorectal fistula) and Urethral atresia. More proxi tion are usually normal[2]. mal the bladder outlet, greater is the likelihood of other anomalies and death.[5] CASE REPORT A two-day-old 3.2 kg genotypic male (46XY) neonate was brought, by a social organization, to our hospital with the complaint of absence of penis, and passage of meco nium mixed with urine through rectum. -
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? .................................................................................................................................................. -
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. -
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 -
A Rare Case of Aphallia- Moghtaderi M Et Al
A Rare case of Aphallia- Moghtaderi M et al Case Report J Ped. Nephrology 2016;4(2):74-77 http://journals.sbmu.ac.ir/jpn DOI: A Rare case of Aphallia How to Cite This Article: Moghtaderi M, Boroomand M, Kajbafzadeh A, Arshadi H, Ghohestani M, Mehdizadeh M. A Rare case of Aphallia, J Ped Nephrology2016;4(2):74-77. Mastaneh Moghtaderi,1* Maryam Boroomand,1 Aphallia (total absence of penis) is an extremely Abdolmohammad Kajbafzadeh,2 rare abnormality that can be part of the urorectal Hamid Arshadi, 2 septum malformation sequence. Mohammad Ghohestani,1 We are reporting a 40-day-old boy who was Mehrzad Mehdizadeh3 referred to our nephrology clinic due to the absence of the penis and urinating through the 1Department of Pediatric Nephrology, Chronic Kidney rectum. He was born to a 17-year-old mother and Disease Research Center. Children Medical Center a 24-year-old father, and was delivered term via Hospital, Tehran University of Medical Sciences, Tehran, normal vaginal delivery. Iran. The pregnancy was uncomplicated with no 2Pediatric Urology research Center, Children Medical maternal toxin or medication exposure. Both Center Hospital, Tehran University of Medical Sciences, parents were healthy and there was no family Tehran, Iran. history of congenital abnormality. The parents 3Department of Pediatric Radiology, Children Medical were also unrelated. Center Hospital, Tehran University of Medical Sciences, Physical examination revealed agenesis of the Tehran, Iran. penis, a normal scrotum, and bilateral normally positioned testises. Moreover, the heart, lungs, *Corresponding Author abdomen, head and neck, and spinal column were Mastaneh Moghtaderi, MD. all normal on examination. -
Abnormalities of the External Genitalia and Groins Among Primary School Boys in Bida, Nigeria
Abnormalities of the external genitalia and groins among primary school boys in Bida, Nigeria. Adedeji O Adekanye1,2, Samuel A Adefemi1,3, Kayode A Onawola1,2, John A James1,2, Ibrahim T Adeleke1,4, Mark Francis1,2, Ezekiel U Sheshi1,3, Moses E Atakere1,5, Abdullahi D Jibril1,5 1. Centre for Health & Allied Researches (CHAR), Federal Medical Centre Bida, Nigeria 2. Department of Surgery, Federal Medical centre, Bida Nigeria 3. Department of Family Medicine, Federal Medical centre, Bida Nigeria 4. Department of Health Information management, Federal Medical centre, Bida Nigeria 5. Department of Obstetrics & Gynaecology, Federal Medical centre, Bida Nigeria Abstract Background: Abnormalities of the male external genitalia and groin, a set of lesions which may be congenital or acquired, are rather obscured to many kids and their parents and Nigerian health care system has no formal program to detect them. Objectives: To identify and determine the prevalence of abnormalities of external genitalia and groin among primary school boys in Bida, Nigeria. Methods: This was a cross-sectional study of primary school male pupils in Bida. A detailed clinical examination of the external genitalia and groin was performed on them. Results: Abnormalities were detected in 240 (36.20%) of the 663 boys, with 35 (5.28%) having more than one abnormality. The three most prevalent abnormalities were penile chordee (37, 5.58%), excessive removal of penile skin (37, 5.58%) and retractile testis (34, 5.13%). The prevalence of complications of circumcision was 15.40% and included excessive residual foreskin, exces- sive removal of skin, skin bridges and meatal stenosis. -
Congenital Penile Malformations: Dartos and Androgens Ghent University Hospital Maintains Database of Children Undergoing Surgery for CPM
Congenital penile malformations: Dartos and androgens Ghent University Hospital maintains database of children undergoing surgery for CPM Dr. Anne-Françoise Human male and female genitalia originate from a Spinoit common identical genital tubercle. Sexual Pediatric and differentiation into male or female starts around the Reconstructive 8th gestational week, under the influence of the Urology Sex-determining Region Y (SRY) gene12,13. With Robotics progressive differentiation of the undifferentiated Ghent University gonad into testicle, androgen production is started, Hospital along with Anti-Müllerian Hormone (AMH), allowing Ghent (BE) further differentiation into male genitalia. Initial differentiation of the bi-potential undifferentiated gonad is androgen-independent until a testicle is formed. Further development of the male genitalia is Over the past decades, epidemiologic studies have androgen dependent, while regression of female shown increasing incidence of Congenital Penile (Müllerian) primitive structures is dependent on AMH Malformations (CPMs)1-3. Anomalies of the male production. external genitalia may be confined to the clinical appearance, or might be the first clue indicating Under the influence of androgens, the genital tubercle further underlying disorders that require evaluation. grows into the penis14. Hypospadias is the most frequent congenital penile One of the questions that arise is whether DT defect affecting the external male genitalia, with an development is hormone-dependent. It is known that incidence around one in 250 male newborns2,4. It is the development of the male external genitalia occurs therefore the most studied CPM. under hormonal influence so it seems logical that disturbances in the hormonal mechanisms can have Buried penis (BP) is another CPM frequently any influence on DT patterns. -
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. -
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. -
The Approach to the Infant with Ambiguous Genitalia
334 Review Article Disorders/differences of sex development (DSDs) for primary care: the approach to the infant with ambiguous genitalia Justin A. Indyk Section of Endocrinology, Nationwide Children’s Hospital, the Ohio State University, Columbus, Ohio 43205, USA Correspondence to: Justin A. Indyk, MD, PhD. THRIVE Program, Section of Endocrinology, Nationwide Children’s Hospital, 700 Children’s Drive, Columbus, Ohio 43205, USA. Email: [email protected]. Abstract: The initial management of the neonate with ambiguous genitalia can be a very stressful and anxious time for families, as well as for the general practitioner or neonatologist. A timely approach must be sensitive and attend to the psychosocial needs of the family. In addition, it must also effectively address the diagnostic dilemma that is frequently seen in the care of patients with disorders of sex development (DSDs). One great challenge is assigning a sex of rearing, which must take into account a variety of factors including the clinical, biochemical and radiologic clues as to the etiology of the atypical genitalia (AG). However, other important aspects cannot be overlooked, and these include parental and cultural views, as well as the future outlook in terms of surgery and fertility potential. Achieving optimal outcomes requires open and transparent dialogue with the family and caregivers, and should harness the resources of a multidisciplinary team. The multiple facets of this approach are outlined in this review. Keywords: Sex; gender; genitalia; DSD; -
Intersex 101
INTERSEX 101 With Your Guide: Phoebe Hart Secretary, AISSGA (Androgen Insensitivity Syndrome Support Group, Australia) And all‐round awesome person! WHAT IS INTERSEX? • a range of biological traits or variations that lie between “male” and “female”. • chromosomes, genitals, and/or reproductive organs that are traditionally considered to be both “male” and “female,” neither, or atypical. • 1.7 – 2% occurrence in human births REFERENCE: Australians Born with Atypical Sex Characteristics: Statistics & stories from the first national Australian study of people with intersex variations 2015 (in press) ‐ Tiffany Jones, School of Education, University of New England (UNE), Morgan Carpenter, OII Australia, Bonnie Hart, Androgyn Insensitivity Syndrome Support Group Australia (AISSGA) & Gavi Ansara, National LGBTI Health Network XY CHROMOSOMES ..... Complete Androgen Insensitivity Syndrome (CAIS) ..... Partial Androgen Insensitivity Syndrome (PAIS) ..... 5‐alpha‐reductase Deficiency (5‐ARD) ..... Swyer Syndrome/ Mixed Gonadal Dysgenesis (MGD) ..... Leydig Cell Hypoplasia ..... Persistent Müllerian Duct Syndrome ..... Hypospadias, Epispadias, Aposthia, Micropenis, Buried Penis, Diphallia ..... Polyorchidism, Cryptorchidism XX CHROMOSOMES ..... de la Chapelle/XX Male Syndrome ..... MRKH/Vaginal (or Müllerian) agenesis ..... XX Gonadal Dysgenesis ..... Uterus Didelphys ..... Progestin Induced Virilization XX or XY CHROMOSOMES ...... Congenital Adrenal Hyperplasia (CAH) ..... Ovo‐testes (formerly called "true hermaphroditism") .... -
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.