DOCSLIB.ORG

CONGENITAL ANOMALIES in CHILDREN EDITORS: Catherine R

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
CONGENITAL ANOMALIES in CHILDREN EDITORS: Catherine R CONGENITAL ANOMALIES IN CHILDREN EDITORS: Catherine R. deVries, MD Rien Nijman, MD A Joint SIU-ICUD International Consultation Vancouver, Canada, September 8-12, 2013 Co-sponsored by SIU (Société Internationale d’Urologie) ICUD (International Consultation on Urological Diseases) CONGENITAL ANOMALIES IN CHILDREN EDITORS: Catherine R. deVries, MD Rien Nijman, MD A Joint SIU-ICUD International Consultation Vancouver, Canada, September 8–12, 2013 Co-sponsored by SIU (Société Internationale d’Urologie) ICUD (International Consultation on Urological Diseases) Congenital Anomalies in Children A Joint SIU-ICUD International Consultation Vancouver, Canada, September 8–12, 2013 Editors Catherine R. deVries and Rien Nijman Published by the Société Internationale d’Urologie (SIU) For information and orders: SIU Central Office 1155 University Street Suite 1012 Montréal (QC) Canada H3B 3A7 T: +1 514 875-5665 F: +1 514 875-0205 E-mail: [email protected] Website: www.siu-urology.org ©2014 Société Internationale d’Urologie Coordination: SIU Communications Office Medical Editing: Areti Malapetsas, Doris Vincent, Namita Kumar, and Nicole Palmer Layout and Design: SAM Design, Montréal, Canada All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, electronic, mechanical, photocopying, recording, or otherwise, without prior permission from the publisher. Accurate indications, adverse reactions, and dosage schedules for drugs are provided in this book, but it is possible that these may change after publication. The reader is urged to re- view the product information (i.e., product monograph, package insert or leaflet, prescribing information) published by the manufacturers of the medications mentioned. The publishers have made every effort to trace the copyright holders and obtain permissions for borrowed or reprinted material. If they have inadvertently overlooked any, they will be pleased to make the necessary arrangements at the first opportunity. ISBN: 978-0-9877465-6-6 www.siu-urology.org Table of Contents Abbreviations Used in the Text XI Preface XVII Evidence-Based Medicine: Overview of the Main Steps for Developing and Grading for Guideline Recommendations XIX Scientific Committees XXIII COMMITTEE 1 Embryology of the External Genitlia 1 1.1 Development and Differentiation of the Genital Tubercle, Male Urethra, and Labioscrotal Swellings 3 1.2 Cellular and Molecular Mechanisms 9 1.3 Anatomy of the Penis 11 1.4 Anatomy of the Clitoris 14 1.5 Development of the Testes 14 1.5.1 Transabdominal descent of the testes 15 1.5.2 Inguinoscrotal descent of the testes 17 1.6 References 19 COMMITTEE 2 Cryptorchidism, Hernia, and Hydrocele 21 2.1 Cryptorchidism—An Overview 25 2.2 Epidemiology 25 2.2.1 Diagnosis/evaluation 26 2.2.2 Recommendations, diagnosis, and evaluation of cryptorchidism 28 2.3 Roles of Hormones in Cryptorchidism 28 2.3.1 Diagnosis 28 2.3.2 Treatment 29 2.3.3 hCG 29 2.3.4 LHRH analogs 29 2.3.5 Combined treatment 30 2.3.6 Adjuvant therapy 30 2.3.7 Recommendations: hormonal therapy 31 2.4 Surgical Management of Cryptorchidism 31 2.4.1 Timing for orchidopexy 31 2.4.2 Orchidopexy techniques 32 2.4.3 Orchidopexy success rates 35 2.5 Complications 36 2.6 Suggested Treatment Algorithm 36 2.7 Recommendations: Surgical Management of Cryptorchidism 37 2.8 Cryptorchidism and Malignancy 37 2.9 Cryptorchidism and Fertility 38 2.10 Recommendations Regarding Malignancy and Fertility for Cryptorchidism 39 2.11 Hernia and Hydrocele 39 2.11.1 Definition 39 2.11.2 Epidemiology 39 2.11.3 Diagnosis and evaluation 40 2.11.4 Surgical treatment 40 2.11.5 Recommendations on hernia and hydrocele 43 2.12 References 45 COMMITTEE 3 Hypospadias 51 3.1 Introduction 55 3.2 Why Should Hypospadias Be Corrected? 56 3.2.1 Recommendation and level of evidence 56 3.3 How Should Hypospadias Be Classified? 56 3.3.1 Recommendation and level of evidence 57 3.4 How Should Preoperative Findings Be Documented? 58 3.4.1 Recommendation and level of evidence 58 3.5 Further Tests and Evaluation—When, How, and by Whom? 58 3.5.1 Recommendation and level of evidence 59 3.6 When Should Hypospadias Be Corrected? 59 3.6.1 Recommendation and level of evidence 59 3.7 Preoperative Androgens 60 3.7.1 Recommendation and level of evidence 60 3.8 Preferred Technique for Hyposopadias Repair 61 3.8.1 Mild hypospadias repair 62 3.8.2 Recommendation and level of evidence 62 3.9 Severe Hypospadias 63 3.9.1 Recommendation and level of evidence 64 3.10 Foreskin Reconstruction or Circumcision? 64 3.10.1 Recommendation and level of evidence 64 3.11 Urinary Drainage and Wound Dressing 64 3.11.1 Recommendation and level of evidence 65 3.12 Perioperative Antibiotics 65 3.12.1 Recommendation and level of evidence 66 3.13 Follow–up and Outcomes 66 3.13.1 Follow-up 66 3.13.2 Outcomes 67 3.13.3 Recommendation and level of evidence 69 3.14 Who Should Operate on Hypospadias and How Many Procedures? 71 3.15 References 73 COMMITTEE 4 Disorders of Sex Development (DSD) 79 4.1 Introduction 81 4.2 Definition and Classification 82 4.3 Patient Presentation and Diagnostic Evaluation 84 4.4 Gender Assignment 88 4.5 Medical Management 90 4.6 Genital Surgery 91 4.7 Tumor Risk in Patients With DSD 92 4.7.1 Diagnosis and prevalence of GCTs in DSD 92 4.7.2 Treatment in relation to GCT risk in specific DSD-subgroups 94 4.8 Outcomes 95 4.9 New Advances, Future Needs, Research Opportunities 97 4.10 References 99 COMMITTEE 5 Classic Exstrophy 103 5.1 Introduction 107 5.2 Genital and Sexual function, Fertility and Pregnancy 108 5.2.1 Methods 108 5.2.2 General Recommendations 109 5.2.3 Female Exstrophy 109 5.2.4 Male exstrophy genital and sexual function 112 5.3 Continence and Exstrophy 114 5.3.1 Introduction 114 5.3.2 Methods 115 5.3.3 Recommendations 115 5.3.4 Reported Continence Outcomes 115 5.3.5 Complete primary repair of exstrophy (CPRE) 116 5.3.6 Radical soft tissue mobilization (RSTM) 116 5.3.7 Modern staged exstrophy repair 116 5.3.8 Urinary Diversion 117 5.4 Orthopedic Factors in the Exstrophic Patient 118 5.4.1 Methods 118 5.4.2 Congenital Orthopedic Issues 118 5.4.3 Osteotomies 119 5.4.4 Long-term issues 120 5.4.5 Recommendations 122 5.5 Exstrophy and Malignancy Concerns 123 5.5.1 Methods 123 5.5.2 Recommendations 123 5.6 Exstrophy and Urinary Tract Infections 127 5.6.1 Methods 127 5.6.2 Recommendations 127 5.7 Renal Function and Exstrophy 130 5.7.1 Methods 130 5.7.2 Recommendations 131 5.8 References 133 COMMITTEE 6 Cloacal Exstrophy 139 6.1 Introduction 141 6.2 Methods 141 6.3 Prenatal Evaluation 141 6.4 Epidemiology 142 6.5 Spectrum of Anomalies 142 6.6 Initial Management 143 6.6.1 Intestinal reconstruction 143 6.6.2 Urinary and abdominal wall reconstruction 144 6.7 Sexual Function and Fertility 145 6.8 Long-term Issues 146 6.9 Key Recommendations 146 6.10 References 147 COMMITTEE 7 Cloacal and Urogenital Sinus Anomalies 149 7.1 Introduction 151 7.2 Embryology 151 7.3 Urogenital Sinus (UGS) 153 7.3.1 Classification 153 7.3.2 Clinical presentation and physical examination 153 7.3.3 Radiographic and endoscopic evaluation 155 7.3.4 Surgical reconstruction 157 7.3.5 Operative technique step-by-step 158 7.3.6 Results and conclusion 161 7.3.7 Recommendations 163 7.4 Cloaca 164 7.4.1 Introduction 164 7.4.2 Diagnosis, clinical presentation and physical examination 164 7.4.3 Radiographic and endoscopic evaluation 166 7.4.4 Surgical Reconstruction 166 7.4.5 Operative technique step-by-step 167 7.4.6 Results and conclusion 170 7.4.7 Recommendations 172 7.5 References 173 COMMITTEE 8 Pediatric Varicocele, Micropenis, Buried and Webbed Penis, Penile Torsion, Diphallia, Penoscrotal Transposition, and Aphallia 181 8.1 Pediatric Varicoceles 181 8.1.1 Introduction 181 8.1.2 Epidemiology and Demographics 181 8.1.3 Diagnostic modalities 183 8.1.4 Indications for surgery 184 8.1.5 Management strategies, including operative techniques 185 8.1.6 Post-operative consequences and paternity 190 8.1.7 Prevention of PV 192 8.1.8 Recommendations 192 8.2 Micropenis, Buried Penis, and Webbed Penis 193 8.2.1 Introduction 193 8.2.2 Micropenis 193 8.2.3 Buried and Webbed Penis 195 8.2.4 Recommendations 197 8.3 Penile Torsion 197 8.3.1 Introduction 197 8.3.2 Surgical correction 198 8.3.3 Recommendations 198 8.4 Diphallia 199 8.4.1 Introduction 199 8.4.2 Embryology 200 8.4.3 Presentation 201 8.4.4 Surgical treatment 201 8.4.5 Recommendation 201 8.5 Penoscrotal Transposition 202 8.5.1 Introduction 202 8.5.2 Embryology 202 8.5.3 Presentation 202 8.5.4 Associated anomalies 203 8.5.5 Surgical treatment 203 8.5.6 Recommendations 204 8.6 Aphallia 204 8.6.1 Introduction 204 8.6.2 Rearing 204 8.6.3 Timing of surgery 205 8.6.5 Phalloplasty 205 8.6.6 Recommendations 205 8.7 References 207 COMMITTEE 9 Adolescent Urology 217 9.1 Adolescence and Transition 221 9.2 Hypospadias 222 9.2.1 Introduction and background 222 9.2.2 Functional outcomes in adulthood 222 9.2.3 Primary repair in adolescence and young adulthood 224 9.2.4 Surgery for late complications 224 9.2.5 Psychosexual development in adolescence and adulthood 225 9.2.6 Fertility 225 9.2.7 Recommendations 226 9.3 Exstrophy and Epispadias 226 9.3.1 Introduction 226 9.3.2 Males born with exstrophy 226 9.3.3 Females born with exstrophy 231 9.4 Adolescent and Adult Care for Women with Cloacal Malformations 236 9.4.1 Introduction 236 9.4.2 Spectrum of disorders 236 9.4.3 Genital outcomes 237 9.4.4 Recommendations 238 9.4.5 Gynecologic Follow-Up 238 9.5 Disorders of Sex Development 238 9.5.1 Introduction 238
Load more

Recommended publications
  • Te2, Part Iii
    TERMINOLOGIA EMBRYOLOGICA Second Edition International Embryological Terminology FIPAT The Federative International Programme for Anatomical Terminology A programme of the International Federation of Associations of Anatomists (IFAA) TE2, PART III Contents Caput V: Organogenesis Chapter 5: Organogenesis (continued) Systema respiratorium Respiratory system Systema urinarium Urinary system Systemata genitalia Genital systems Coeloma Coelom Glandulae endocrinae Endocrine glands Systema cardiovasculare Cardiovascular system Systema lymphoideum Lymphoid system Bibliographic Reference Citation: FIPAT. Terminologia Embryologica. 2nd ed. FIPAT.library.dal.ca. Federative International Programme for Anatomical Terminology, February 2017 Published pending approval by the General Assembly at the next Congress of IFAA (2019) Creative Commons License: The publication of Terminologia Embryologica is under a Creative Commons Attribution-NoDerivatives 4.0 International (CC BY-ND 4.0) license The individual terms in this terminology are within the public domain. Statements about terms being part of this international standard terminology should use the above bibliographic reference to cite this terminology. The unaltered PDF files of this terminology may be freely copied and distributed by users. IFAA member societies are authorized to publish translations of this terminology. Authors of other works that might be considered derivative should write to the Chair of FIPAT for permission to publish a derivative work. Caput V: ORGANOGENESIS Chapter 5: ORGANOGENESIS
    [Show full text]
  • Comparative Reproductive Biology
    Comparative Reproductive Biology Edited by Heide Schatten, PhD Gheorghe M. Constantinescu, DVM, PhD, Drhc Comparative Reproductive Biology Comparative Reproductive Biology Edited by Heide Schatten, PhD Gheorghe M. Constantinescu, DVM, PhD, Drhc Heide Schatten, PhD, is an Associate Professor at the University of Missouri, Columbia. She is well published in the areas of cytoskeletal regulation in somatic and reproductive cells and on cytoskeletal abnormalities in cells affected by disease, cellular and molecular biology, cancer biology, reproductive biology, developmental biology, microbiology, space biology, and microscopy. A member of the American Society for Cell Biology, American Association for the Advancement of Science, Microscopy Society of America, and American Society for Gravitational and Space Biology, she has received numerous awards including grant awards from NSF, NIH, and NASA. Gheorghe M. Constantinescu, DVM, PhD, Drhc, is a Professor of Veterinary Anatomy and Medical Illustrator at the College of Veterinary Medicine of the University of Missouri-Columbia. He is a member of the American, European and World Associations of Veterinary Anatomists and also author of more than 380 publications, including Clinical Anatomy for Small Animal Practitioners (Blackwell, 2002) translated in three languages. During his career of more than 50 years, he has been honored by numerous invited presentations, awards, diplomas, and certificates of recognition. ©2007 Blackwell Publishing All rights reserved Blackwell Publishing Professional 2121
    [Show full text]
  • Webbed Penis
    Kathmandu University Medical Journal (2010), Vol. 8, No. 1, Issue 29, 95-96 Case Note Webbed penis: A rare case Agrawal R1, Chaurasia D2, Jain M3 1Resident in Surgery, 2Associate Professor, Department of Urology, 3Assistant Professor, Department of Plastic and Reconstructive Surgery, MLN Medical College, Allahabad (India) Abstract Webbed penis belongs to a rare and little-known defect of the external genitalia. The term denotes the penis of normal size for age hidden in the adjacent scrotal and pubic tissues. Though rare, it can be treated easily by surgery. A case of webbed penis is presented with brief review of literature. Key words: penis, webbed ebbed penis is a rare anomaly of structure of Wpenis. Though a congenital anomaly, usually the patient presents in late childhood or adolescence. Skin of penis forms the shape of a web, covering whole or part of penis circumferentially; with or without glans, burying the penile tissue inside. The length of shaft is normal with normal stretched length. Phimosis may be present. The penis appears small without any diffi culty in voiding function. Fig 1: Penis showing web Fig 2: Markings for double of skin on anterior Z-plasty on penis Case report aspect Our patient, a 17 year old male, presented to us with congenital webbed penis. On examination, skin webs Discussion were present on both lateral sides from prepuce to lateral Webbed penis is a developmental malformation with aspect of penis.[Fig. 1] On ventral aspect, the skin web less than 60 cases reported in literature. The term was present from prepuce to inferior margin of median denotes the penis of normal size for age hidden in the raphe of scrotum.
    [Show full text]
  • 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.
    [Show full text]
  • “If We Could Change Ourselves, the Tendencies
    10/10/17 GENDERED INEQUALITY: DECONSTRUCTING BARRIERS TO ENABLE SENSITIVE SYSTEMIC “IF WE COULD CHANGE OURSELVES, PRACTICE WITH DIVERSE PEOPLE AND THE TENDENCIES IN THE WORLD RELATIONSHIPS WOULD ALSO CHANGE.” ANNE PROUTY - MAHATMA GANDHI OCTOBER 2017 AUSTRALIAN ASSOCIATION FOR FAMILY THERAPY ANNUAL CONFERENCE ADELAIDE, AUSTRALIA GLOBAL “GENDER” (Binary) Gender Inequities DEADLY CUTTING EDGE * MISERABLE TO PROMOTE SOCIAL JUSTICE * REAL ADVOCATE FOR CLIENTS SEX AND GENDER 2007 “YogyAkArtA Principles”: 28 Principles oF the THE WORLD HEALTH ORGANISATION HAS RECOGNISED ApplicAtion oF International HumAn Rights LAw in SEX AND GENDER GLOBALLY AS CORE SOCIAL RelAtion to SexuaL Orientation DETERMINANTS OF PHYSICAL AND MENTAL HEALTH and Gender Identity 64 AND WELL-BEING 44 • LGBTI are 11% of Australians as of 20146 • www.YogyAkArtAprinciples.org • GENDER Keynote/YogyAkArtA principles_en.pdF • 1.7% oF AustrAliAns Are estimated to be Intersex (AustraliAn HumAn Rights Commission) • 2% oF people globAlly estimAted to be non-binAry gender • 34% oF LGBTI AustrAliAns hide their identity when accessing services 1 10/10/17 ApproAches to IDENTITY SociAl Justice MultiPLe CulturaL Communities • WHO DEFINES WHOM? Human Diversity within Communities/Contexts • EACH PERSON’S EXPERIENCE? Human Diversity Across LifesPans • BY INTERACTING WITH EACH OTHER? • INTERACTING BY PROXY AND VIA COMMUNITIES? INTERSECTIONALITY INTERSECTIONALITY - IDENTITIES INTERSECTIONALITY - IDENTITIES SEX &/OR GENDER ID ETHNIC ID SEX &/OR GENDER ID ETHNIC ID SEXUAL ORIENTATION SPIRITUAL
    [Show full text]
  • Genetic Syndromes and Genes Involved
    ndrom Sy es tic & e G n e e n G e f Connell et al., J Genet Syndr Gene Ther 2013, 4:2 T o Journal of Genetic Syndromes h l e a r n a DOI: 10.4172/2157-7412.1000127 r p u y o J & Gene Therapy ISSN: 2157-7412 Review Article Open Access Genetic Syndromes and Genes Involved in the Development of the Female Reproductive Tract: A Possible Role for Gene Therapy Connell MT1, Owen CM2 and Segars JH3* 1Department of Obstetrics and Gynecology, Truman Medical Center, Kansas City, Missouri 2Department of Obstetrics and Gynecology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 3Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA Abstract Müllerian and vaginal anomalies are congenital malformations of the female reproductive tract resulting from alterations in the normal developmental pathway of the uterus, cervix, fallopian tubes, and vagina. The most common of the Müllerian anomalies affect the uterus and may adversely impact reproductive outcomes highlighting the importance of gaining understanding of the genetic mechanisms that govern normal and abnormal development of the female reproductive tract. Modern molecular genetics with study of knock out animal models as well as several genetic syndromes featuring abnormalities of the female reproductive tract have identified candidate genes significant to this developmental pathway. Further emphasizing the importance of understanding female reproductive tract development, recent evidence has demonstrated expression of embryologically significant genes in the endometrium of adult mice and humans. This recent work suggests that these genes not only play a role in the proper structural development of the female reproductive tract but also may persist in adults to regulate proper function of the endometrium of the uterus.
    [Show full text]
  • Background Note on Human Rights Violations Against Intersex People Table of Contents 1 Introduction
    Background Note on Human Rights Violations against Intersex People Table of Contents 1 Introduction .................................................................................................................. 2 2 Understanding intersex ................................................................................................... 2 2.1 Situating the rights of intersex people......................................................................... 4 2.2 Promoting the rights of intersex people....................................................................... 7 3 Forced and coercive medical interventions......................................................................... 8 4 Violence and infanticide ............................................................................................... 20 5 Stigma and discrimination in healthcare .......................................................................... 22 6 Legal recognition, including registration at birth ............................................................... 26 7 Discrimination and stigmatization .................................................................................. 29 8 Access to justice and remedies ....................................................................................... 32 9 Addressing root causes of human rights violations ............................................................ 35 10 Conclusions and way forward..................................................................................... 37 10.1 Conclusions
    [Show full text]
  • Guidelines on Paediatric Urology S
    Guidelines on Paediatric Urology S. Tekgül (Chair), H.S. Dogan, E. Erdem (Guidelines Associate), P. Hoebeke, R. Ko˘cvara, J.M. Nijman (Vice-chair), C. Radmayr, M.S. Silay (Guidelines Associate), R. Stein, S. Undre (Guidelines Associate) European Society for Paediatric Urology © European Association of Urology 2015 TABLE OF CONTENTS PAGE 1. INTRODUCTION 7 1.1 Aim 7 1.2 Publication history 7 2. METHODS 8 3. THE GUIDELINE 8 3A PHIMOSIS 8 3A.1 Epidemiology, aetiology and pathophysiology 8 3A.2 Classification systems 8 3A.3 Diagnostic evaluation 8 3A.4 Disease management 8 3A.5 Follow-up 9 3A.6 Conclusions and recommendations on phimosis 9 3B CRYPTORCHIDISM 9 3B.1 Epidemiology, aetiology and pathophysiology 9 3B.2 Classification systems 9 3B.3 Diagnostic evaluation 10 3B.4 Disease management 10 3B.4.1 Medical therapy 10 3B.4.2 Surgery 10 3B.5 Follow-up 11 3B.6 Recommendations for cryptorchidism 11 3C HYDROCELE 12 3C.1 Epidemiology, aetiology and pathophysiology 12 3C.2 Diagnostic evaluation 12 3C.3 Disease management 12 3C.4 Recommendations for the management of hydrocele 12 3D ACUTE SCROTUM IN CHILDREN 13 3D.1 Epidemiology, aetiology and pathophysiology 13 3D.2 Diagnostic evaluation 13 3D.3 Disease management 14 3D.3.1 Epididymitis 14 3D.3.2 Testicular torsion 14 3D.3.3 Surgical treatment 14 3D.4 Follow-up 14 3D.4.1 Fertility 14 3D.4.2 Subfertility 14 3D.4.3 Androgen levels 15 3D.4.4 Testicular cancer 15 3D.5 Recommendations for the treatment of acute scrotum in children 15 3E HYPOSPADIAS 15 3E.1 Epidemiology, aetiology and pathophysiology
    [Show full text]
  • Springer MRW: [AU:0, IDX:0]
    Pre-Testicular, Testicular, and Post- Testicular Causes of Male Infertility Fotios Dimitriadis, George Adonakis, Apostolos Kaponis, Charalampos Mamoulakis, Atsushi Takenaka, and Nikolaos Sofikitis Abstract Infertility is both a private and a social health problem that can be observed in 12–15% of all sexually active couples. The male factor can be diagnosed in 50% of these cases either alone or in combination with a female component. The causes of male infertility can be identified as factors acting at pre-testicular, testicular or post-testicular level. However, despite advancements, predominantly in the genetics of fertility, etiological factors of male infertility cannot be identi- fied in approximately 50% of the cases, classified as idiopathic infertility. On the other hand, the majority of the causes leading to male infertility can be treated or prevented. Thus a full understanding of these conditions is crucial in order to allow the clinical andrologist not simply to retrieve sperm for assisted reproduc- tive techniques purposes, but also to optimize the male’s fertility potential in order to offer the couple the possibility of a spontaneous conceivement. This chapter offers the clinical andrologist a wide overview of pre-testicular, testicular, and post-testicular causes of male infertility. F. Dimitriadis Department of Urology, School of Medicine, Aristotle University, Thessaloniki, Greece e-mail: [email protected] G. Adonakis • A. Kaponis Department of Ob/Gyn, School of Medicine, Patras University, Patras, Greece C. Mamoulakis Department of Urology, School of Medicine, University of Crete, Crete, Greece A. Takenaka Department of Urology, School of Medicine, Tottori University, Yonago, Japan N. Sofikitis (*) Department of Urology, School of Medicine, Ioannina University, Ioannina, Greece e-mail: [email protected] # Springer International Publishing AG 2017 1 M.
    [Show full text]
  • AMENORRHOEA Amenorrhoea Is the Absence of Menses in a Woman of Reproductive Age
    AMENORRHOEA Amenorrhoea is the absence of menses in a woman of reproductive age. It can be primary or secondary. Secondary amenorrhoea is absence of periods for at least 3 months if the patient has previously had regular periods, and 6 months if she has previously had oligomenorrhoea. In contrast, oligomenorrhoea describes infrequent periods, with bleeds less than every 6 weeks but at least one bleed in 6 months. Aetiology of amenorrhea in adolescents (from Golden and Carlson) Oestrogen- Oestrogen- Type deficient replete Hypothalamic Eating disorders Immaturity of the HPO axis Exercise-induced amenorrhea Medication-induced amenorrhea Chronic illness Stress-induced amenorrhea Kallmann syndrome Pituitary Hyperprolactinemia Prolactinoma Craniopharyngioma Isolated gonadotropin deficiency Thyroid Hypothyroidism Hyperthyroidism Adrenal Congenital adrenal hyperplasia Cushing syndrome Ovarian Polycystic ovary syndrome Gonadal dysgenesis (Turner syndrome) Premature ovarian failure Ovarian tumour Chemotherapy, irradiation Uterine Pregnancy Androgen insensitivity Uterine adhesions (Asherman syndrome) Mullerian agenesis Cervical agenesis Vaginal Imperforate hymen Transverse vaginal septum Vaginal agenesis The recommendations for those who should be evaluated have recently been changed to those shown below. (adapted from Diaz et al) Indications for evaluation of an adolescent with primary amenorrhea 1. An adolescent who has not had menarche by age 15-16 years 2. An adolescent who has not had menarche and more than three years have elapsed since thelarche 3. An adolescent who has not had a menarche by age 13-14 years and no secondary sexual development 4. An adolescent who has not had menarche by age 14 years and: (i) there is a suspicion of an eating disorder or excessive exercise, or (ii) there are signs of hirsutism, or (iii) there is suspicion of genital outflow obstruction Pregnancy must always be excluded.
    [Show full text]
  • Penile Anomalies in Adolescence
    Review Special Issue: Penile Anomalies in Children TheScientificWorldJOURNAL (2011) 11, 614–623 TSW Urology ISSN 1537-744X; DOI 10.1100/tsw.2011.38 Penile Anomalies in Adolescence Dan Wood* and Christopher Woodhouse Adolescent Urology Department, University College London Hospitals E-mail: [email protected]; [email protected] Received August 13, 2010; Revised January 9, 2011; Accepted January 11, 2011; Published March 7, 2011 This article considers the impact and outcomes of both treatment and underlying condition of penile anomalies in adolescent males. Major congenital anomalies (such as exstrophy/epispadias) are discussed, including the psychological outcomes, common problems (such as corporal asymmetry, chordee, and scarring) in this group, and surgical assessment for potential surgical candidates. The emergence of new surgical techniques continues to improve outcomes and potentially raises patient expectations. The importance of balanced discussion in conditions such as micropenis, including multidisciplinary support for patients, is important in order to achieve appropriate treatment decisions. Topical treatments may be of value, but in extreme cases, phalloplasty is a valuable option for patients to consider. In buried penis, the importance of careful assessment and, for the majority, a delay in surgery until puberty has completed is emphasised. In hypospadias patients, the variety of surgical procedures has complicated assessment of outcomes. It appears that true surgical success may be difficult to measure as many men who have had earlier operations are not reassessed in either puberty or adult life. There is also a brief discussion of acquired penile anomalies, including causation and treatment of lymphoedema, penile fracture/trauma, and priapism.
    [Show full text]
  • The Evolution of Intersex Rights in Russia and Reframing Law and Tradition to Advance Reform
    Meyers Final Note (Do Not Delete) 5/24/2019 1:55 PM “Tragic and Glorious Pages”: The Evolution of Intersex Rights in Russia and Reframing Law and Tradition to Advance Reform MAGGIE J. MEYERS* I. INTRODUCTION “Despite all the achievements of civilization, the human being is still one of the most vulnerable creatures on earth.” - Vladimir Putin1 “You are alone, you are not normal”; that is how Aleksander Berezkin learned he was intersex.2 Born in 1984 in Novokuznetsk—a steel-producing town in southwestern Siberia, not unlike Pittsburgh in terms of climate and local economy3—Aleksander lived the life of an ordinary boy until his adolescence, when puberty failed to arrive. “When I was at school, my body looked visibly different from other teenagers,” Aleksander recalled.4 “I had no muscles . [n]o hair on the face. I was skinny and tall. With narrow shoulders and wide hips. Breast glands were enlarged. Sometimes people took me for a girl. I have been bullied and humiliated.”5 Desperate for answers and relief from the merciless taunting and social ostracism, at the age of seventeen Aleksander submitted to a genetic test that revealed the truth. While typical males have the chromosomes XY, Aleksander’s were XXY; he was diagnosed with a variation of Klinefelter syndrome, in which an extra X chromosome inhibits the body’s production of testosterone and leads to the development of stereotypically feminine traits in males.6 But Aleksander received little comfort from his intersex diagnosis, nor Copyright © 2019 by Maggie J. Meyers. * Duke University School of Law, J.D.
    [Show full text]