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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
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