Rare Congenital Genitourinary Anomalies
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2 Mohamed A. Baky Fahmy Rare Congenital Genitourinary Anomalies An Illustrated Reference Guide 123
3 Rare Congenital Genitourinary Anomalies
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5 Mohamed A. Baky Fahmy Rare Congenital Genitourinary Anomalies An Illustrated Reference Guide
6 Mohamed A. Baky Fahmy Cairo, PO Al Agouza Egypt ISBN ISBN (ebook) DOI / Springer Heidelberg New York Dordrecht London Library of Congress Control Number: Springer-Verlag Berlin Heidelberg 2015 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. Exempted from this legal reservation are brief excerpts in connection with reviews or scholarly analysis or material supplied specifically for the purpose of being entered and executed on a computer system, for exclusive use by the purchaser of the work. Duplication of this publication or parts thereof is permitted only under the provisions of the Copyright Law of the Publisher s location, in its current version, and permission for use must always be obtained from Springer. Permissions for use may be obtained through RightsLink at the Copyright Clearance Center. Violations are liable to prosecution under the respective Copyright Law. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. While the advice and information in this book are believed to be true and accurate at the date of publication, neither the authors nor the editors nor the publisher can accept any legal responsibility for any errors or omissions that may be made. The publisher makes no warranty, express or implied, with respect to the material contained herein. Printed on acid-free paper Springer is part of Springer Science+Business Media (
7 To my wife Rula for her unremitting continued support and escort with love and compassion
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9 Acknowledgment I would like to acknowledge my colleagues who helped me a lot, provided me with their own case photos, revised many sections, and offered some of the scientific material and data used in the preparation of this book especially: Amin Gohary, Head of Paediatric Surgery Dept., Al Noor Hospital, Abu Dhabi, UAE Sherif Shehata, Professor of Paediatric Surgery, Tanta University, Egypt Usama Al Nager, Professor of Paediatric Surgery, Ain Shams University, Egypt Rajesh Gupta, Associate Professor, Kaustubh Child Surgery Clinic Mrs. Jasmine Kwityn for her patience and effort in editing vii
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11 Contents 1 Introduction Common Characteristics of Rare Diseases Glossary of Selected Genetic Terms Congenital Anomaly of the Genitalia General Principles Used in This Book for Illustration of the Genitourinary Anomalies References Part I Male Genital Anomalies 2 Penis Embryology and Penile Development Penile Agenesis (PA) Microphallus Megalopenis Penile Duplication (PD) Penile Deviation Penile Chordee Webbed Penis Penoscrotal Transposition (PST) Genital Median Raphe Anomalies (GMR) Penile Lymphedema Penile Cysts Megameatus Congenital Meatal Stenosis Congenital Double Meatus References Prepuce Development and Function of the Prepuce Preputial Function Aposthia Microposthia Congenital Megaprepuce (CM) Preputial Lymphedema Preputial Cysts and Smegma Balanitis Xerotica Obliterans (BXO) References ix
12 x Contents 4 Scrotum Normal Anatomy and Histology Variant of Inguinal Hernia Littre s Hernia Amyand s Hernia Richter s Hernia Variant of Hydrocele Hydrocele of the Canal of Nuck Abdominoscrotal Hydrocele (ASH) Meconium Hydrocele Ectopic Scrotum (ES) Accessory Scrotum Bifid Scrotum (Scrotal Bifida) Scrotal Hypoplasia Scrotal Agenesis Scrotoschisis Epidermal Cyst Pigmented Epidermal Cysts Scrotal Lithiasis and Scrotal Calcinosis References Testis Testicular Development Variant of Undescended Testicle Ascending Testis Ectopic Testis Crossed Testicular Ectopia Anorchia and Monorchia Microorchidism Supernumerary Testicles Splenogonadal Fusion Persistent Müllerian Duct Syndrome (PMDS) Vas Deferens Anomalies Agenesis of the Vas Deferens Duplication of the Vas Deferens Epididymal Congenital Anomalies Anomalies of Epididymal Attachment Epididymal Cyst (EC) Appendages of Morgagni and its Torsion References Part II Urinary Bladder and Urethra 6 Urinary Bladder Bladder Agenesis Bladder Duplication Bladder Diverticulum
13 Contents xi 6.4 Variant of Bladder Exstrophy Variant of Cloacal Exstrophy Congenital Megacystis Urachal Abnormalities Patent Urachus Urachal Cyst Urachal Diverticulum Urachal Sinus Malignancy of Urachus Bladder Neck Variant of Posterior Urethral Valve Anterior Urethral Valves (AUV) References Urethral Anomalies Embryology and Anatomy Variant of Hypospadias Chordee Without Hypospadias (CWH) Megameatus Intact Prepuce (MIP) Hypospadias Variant Epispadias Female Epispadias Megalourethra Urethral Duplication Congenital Urethral Fistula Congenital Anterior Penile Isolated Urethrocutaneous Fistula Congenital Urethral Hypoplasia with Urethral Fistula Without Imperforate Anus Urethral Diverticulum Urethral Agenesis Urethral Cyst Parameatal Urethral Cyst Prostatic Utricle Cyst Skene s Duct Cysts Periurethral Cyst Urethral Polyp Ectopic Prostatic Tissue and Prostatic Urethral Polyp Congenital Urethral Stricture Lacuna Magna (LM) References Female Genital Anomalies, Clitoris Clitoris Clitoral Anomalies Clitoromegaly Pseudohermaphroditism
14 xii Contents 8.3 Clitoral Agenesis Bifid Clitoris Clitoral Duplication Clitoral Cyst Accessory Phallic Urethra Clitoral Hood Anomalies References Part III Female Anomalies 9 Labial Anomalies Anatomical and Embryological Background Labial Hypertrophy Labial Hypoplasia Labial Fusion Ectopic Labium Labial Cyst Mucous Cysts Epidermal Inclusion Cyst (EIC) Bartholin s Cyst Gartner s Duct Cysts Hydrocele of the Canal of Nuck Vascular Malformations of the Labia References Hymen Embryological Background Variation in Hymenal Development Imperforate Hymen (IH) Microperforate Hymen Hydrocolpos Pyocolpos Hydrometrocolpos Hematocolpos Vaginal Septa Transverse Vaginal Septa (TVS) Longitudinal Vaginal Septum Hymenal Polyp and Tags References Female Urethra Urethral Prolapse Urethral Caruncle Urethral Polyps Prolapsed Ectopic Ureterocele Clinical Picture Paraurethral Cyst Skene s Duct Cyst
15 Contents xiii 11.6 Urethral Diverticulum (UD) Persistent Urogenital Sinus (UGS) References Vagina Vaginal Atresia (VA) Vaginal Polyps Vaginal Sarcoma Botryoides Vaginal Fistula Rectovaginal Fistula Vesicovaginal Fistula (VVF) Vaginourethral Fistula Ectopic Ureter in the Vagina References Uterus Embryological Background Müllerian Duct Anomalies (MDA) Müllerian Duct Agenesis (Müllerian Aplasia) Classification Incomplete Müllerian Fusion Anomalies of Lateral Fusion of Müllerian Ducts Partial Fusion Anomalies Duplication of Müllerian System Neonatal Uterine Prolapse Cervical Anomalies Atresia of the Cervix Fallopian Tube Anomalies Tubal Anomalies Paratubal Cysts Benign Tubal Tumors References Ovary Ovarian Agenesis Ovarian Dysgenesis Diagnosis Ovarian Cyst Fetal Ovarian Cyst (FOC) Neonatal Ovarian Cysts Ovarian Dermoid Cyst (DC) Congenital Ovarian Tumors Ovarian Germ Cell Tumors (OGCTs) Overview of Ovarian Dysgerminomas Malignant Ovarian Masses Secondary Ovarian Neoplasms Undescended and Maldescent Ovary Ectopic Ovary
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