Understanding Differences and Disorders of Sex Development (DSD)
Ten years ago a group of experts assembled in Chicago to develop a consensus on the management of conditions previously described as intersex. The consequences of this consensus have been far reaching, including a change in nomenclature, the development of greater collaboration across geographical boundaries, and a move towards greater involvement of patients and parents. Moreover, an international registry was established, as well as research and clinical networks. This book brings together a thorough overview on all these topics. Furthermore, the major technological advances in diagnostic genetic and biochemical capabilities over the past 10 years are outlined in detail. Offering a comprehensive update on various aspects of disorders of sex development (DSD), this book will be essential reading to all clinicians who are involved in delivering health care to patients with a DSD, as well as scientists involved in biomedical research related to DSD.
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Table of Contents
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1 - 16: Gonadal DevelopmentByAngela K. Lucas-Herald;Angela K. Lucas-HeraldaDepartment of Child Health, Royal Hospital for Sick Children, Glasgow, UK;Search for other works by this author on:Anu BashambooAnu BashamboobHuman Developmental Genetics, Institut Pasteur, Paris, FranceSearch for other works by this author on:
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17 - 27: The Masculinization Programming WindowByMichelle Welsh;Michelle WelshaSchool of Life Sciences, West Medical Building, University of Glasgow, Glasgow, UK;Search for other works by this author on:Hiroko Suzuki;Hiroko SuzukibDepartment of Development of Genetics, Institute of Advanced Medicine, Wakayama Medical University, Wakayama, JapanSearch for other works by this author on:Gen YamadaGen YamadabDepartment of Development of Genetics, Institute of Advanced Medicine, Wakayama Medical University, Wakayama, JapanSearch for other works by this author on:
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28 - 40: Androgen ActionByRalf Werner;Ralf WerneraUniversität zu Lübeck, Sektion Experimentelle Pädiatrische Endokrinologie und Diabetologie, Klinik für Kinder und Jugendliche, Universitätsklinikum Schleswig-Holstein (UKSH), Lübeck, andSearch for other works by this author on:Paul-Martin HolterhusPaul-Martin HolterhusbKlinik für Allgemeine Pädiatrie, Bereich Pädiatrische Endokrinologie und Diabetologie, Christian-Albrechts Universität zu Kiel (CAU), Hormonzentrum für Kinder und Jugendliche, Universitätsklinikum Schleswig-Holstein (UKSH), Kiel, GermanySearch for other works by this author on:
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41 - 52: Steroid BiochemistryByClemens Kamrath;Clemens KamrathaDivision of Pediatric Endocrinology and Diabetology, Laboratory for Translational Hormone Analytics in Pediatric Endocrinology, Steroid Research and Mass Spectrometry Unit, Centre of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany;Search for other works by this author on:Stefan A. Wudy;Stefan A. WudyaDivision of Pediatric Endocrinology and Diabetology, Laboratory for Translational Hormone Analytics in Pediatric Endocrinology, Steroid Research and Mass Spectrometry Unit, Centre of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany;Search for other works by this author on:Nils KroneNils KronebCentre for Endocrinology, Diabetes and Metabolism, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UKSearch for other works by this author on:
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53 - 62: Next Generation Sequencing for Disorders of Sex DevelopmentByEdward S. Tobias;Edward S. TobiasaMedical Genetics, School of Medicine, College of MVLS, University of Glasgow, Glasgow, UK;Search for other works by this author on:Ken McElreaveyKen McElreaveybHuman Developmental Genetics, Institut Pasteur, Paris, FranceSearch for other works by this author on:
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63 - 75: Advances in NeuroimagingByMartina E. Rodie;Martina E. RodieaDepartment of Child Health, Royal Hospital for Sick Children,Search for other works by this author on:Kirsten P. Forbes;Kirsten P. ForbescInstitute of Neurological Sciences, Southern General Hospital, University of Glasgow, Glasgow, UKSearch for other works by this author on:Keith MuirKeith MuirbInstitute of Neuroscience and Psychology andSearch for other works by this author on:
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76 - 86: Imaging, Endoscopy and Diagnostic SurgeryByMichael BuchholzMichael BuchholzbMichael Buchholz Klinik für Radiologie und Nuklearmedizin, Universitätsklinikum Schleswig-Holstein, Lübeck, GermanySearch for other works by this author on:
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87 - 98: Fertility Issues in the Management of Patients with Disorders of Sex DevelopmentByGabriela Guercio;Gabriela GuercioaServicio de Endocrinología, Hospital de Pediatría ‘Prof. Dr. Juan P. Garrahan',Search for other works by this author on:Rodolfo A. ReyRodolfo A. ReybCentro de Investigaciones Endocrinológicas ‘Dr. César Bergadá' (CEDIE), CONICET - FEI - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, andcDepartamento de Histología, Biología Celular, Embriología y Genética, Facultad de Medicina, Universidad de Buenos Aires, Buenos Aires, ArgentinaSearch for other works by this author on:
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99 - 112: Disorders of Sex Development Peer SupportByArlene B. Baratz;Arlene B. BaratzaTemple University School of Medicine, Department of Radiology, Pittsburgh, Pa.,Search for other works by this author on:Melissa K. Sharp;Melissa K. SharpbChild Health and Evaluation Research (CHEAR) Unit, Department of Pediatrics, University of Michigan Medical School, andSearch for other works by this author on:David E. SandbergDavid E. SandbergbChild Health and Evaluation Research (CHEAR) Unit, Department of Pediatrics, University of Michigan Medical School, andcDivision of Child Behavioral Health and Child Health Evaluation and Research (CHEAR) Unit, Department of Pediatrics, C.S. Mott Children's Hospital, University of Michigan Medical School, Ann Arbor, Mich., USASearch for other works by this author on:
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113 - 127: Improving the Communication of Healthcare Professionals with Affected Children and AdolescentsByAnna Nordenström;Anna NordenströmaDepartment of Women and Child Health, Karolinska Institutet, Solna, Sweden;Search for other works by this author on:Ute ThyenUte ThyenbHospital for Children and Adolescents, University Lübeck, Lübeck, GermanySearch for other works by this author on:
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128 - 137: Working with Adolescents and Young Adults to Support TransitionByHelena Gleeson;Helena GleesonaDepartment of Endocrinology, University Hospitals of Leicester, Leicester, UK;Search for other works by this author on:Amy B. WisniewskiAmy B. WisniewskibDepartment of Urology, University of Oklahoma Health Sciences Center, Oklahoma City, Okla., USASearch for other works by this author on:
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138 - 148: Past Experiences of Adults with Disorders of Sex DevelopmentByLaura AudíLaura AudíVall d'Hebron Research Institute (VHIR), Paediatric Endocrinology Research Group, Hospital Vall d'Hebron, Centre for Biomedical Research Network on Rare Diseases (CIBERER), Autonomous University of Barcelona, Barcelona, SpainSearch for other works by this author on:
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149 - 159: Sex Hormone Replacement in Disorders of Sex DevelopmentByWiebke Birnbaum;Wiebke BirnbaumaHormonzentrum für Kinder und Jugendliche, Division of Experimental Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, University of Lübeck, Lübeck, Germany;Search for other works by this author on:Silvano BertelloniSilvano BertellonibAdolescent Medicine, Department of Obstetrics, Gynaecology and Paediatrics, Santa Chiara University Hospital, Pisa, ItalySearch for other works by this author on:
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160 - 171: Hydrocortisone Replacement in Disorders of Sex DevelopmentByOliver BlankensteinOliver BlankensteinInstitute for Experimental Paediatric Endocrinology, Charité-Universitätsmedizin Berlin, Berlin, GermanySearch for other works by this author on:
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172 - 184: Advances in Molecular Markers of Germ Cell Cancer in Patients with Disorders of Sex DevelopmentByYvonne G. van der Zwan;Yvonne G. van der ZwanaDepartment of Pathology, Erasmus MC - University Medical Center Rotterdam, Josephine Nefkens Institute, Rotterdam, The Netherlands;Search for other works by this author on:Martine Cools;Martine CoolsbDepartment of Pediatric and Adolescent Endocrinology and Diabetology, University of Gent, Gent, BelgiumSearch for other works by this author on:Leendert H.J. LooijengaLeendert H.J. LooijengaaDepartment of Pathology, Erasmus MC - University Medical Center Rotterdam, Josephine Nefkens Institute, Rotterdam, The Netherlands;Search for other works by this author on:
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185 - 196: Managing the Risk of Germ Cell Tumourigenesis in Disorders of Sex Development PatientsByMartine Cools;Martine CoolsaDepartments of Pediatrics andcDepartment of Pediatrics and Genetics andSearch for other works by this author on:Leendert H.J. Looijenga;Leendert H.J. LooijengaeDepartment of Pathology, Erasmus University Medical Center, andSearch for other works by this author on:Katja P. Wolffenbuttel;Katja P. WolffenbuttelfDepartment of Pediatric Urology, Erasmus University Hospital - Sophia Children's Hospital, Rotterdam, The NetherlandsSearch for other works by this author on:Guy TʼSjoenGuy TʼSjoenbEndocrinology, Ghent University Hospital, anddCenter for Sexology and Gender Problems, Ghent University, Ghent, Belgium;Search for other works by this author on:
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197 - 202: Timing of Hypospadias Repair in Patients with Disorders of Sex DevelopmentByAlexander Springer;Alexander SpringeraDepartment of Pediatric Surgery, Medical University of Vienna, Vienna, Austria;Search for other works by this author on:Laurence S. BaskinLaurence S. BaskinbDepartment of Urology, School of Medicine, University of California, San Francisco, Calif., USASearch for other works by this author on:
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203 - 209: Timing of Surgery for Feminizing Genitoplasty in Patients Suffering from Congenital Adrenal HyperplasiaByFelicitas Eckoldt-WolkeFelicitas Eckoldt-WolkeClinic for Pediatric Surgery, Jena University Hospital, Friedrich Schiller University Jena, Jena, GermanySearch for other works by this author on:
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210 - 221: Timing of Feminising Surgery in Disorders of Sex DevelopmentByKatja P. Wolffenbuttel;Katja P. WolffenbuttelaErasmus Medical Center, Sophia Children's Hospital, Department of Pediatric Urology, Rotterdam, The Netherlands;Search for other works by this author on:Naomi S. CrouchNaomi S. CrouchbSt. Michael's Hospital, Department of Gynaecology, Bristol, UKSearch for other works by this author on:
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222 - 233: Phalloplasty: A Panacea for 46,XY Disorder of Sex Development Conditions with Penile Deficiency?ByNina Callens;Nina CallensaDepartments of Pediatric Endocrinology andSearch for other works by this author on:Piet HoebekePiet HoebekebUrology, University Hospital Ghent, Ghent, BelgiumSearch for other works by this author on:
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234 - 256: Rare Diseases Research and PracticeByAgata Polizzi;Agata PolizziaNational Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, andSearch for other works by this author on:Antonio Balsamo;Antonio BalsamobDepartment of Medical and Surgical Sciences, Pediatric Unit, Program of Endocrinology, University of Bologna, Bologna, ItalySearch for other works by this author on:Milva Orquidea Bal;Milva Orquidea BalbDepartment of Medical and Surgical Sciences, Pediatric Unit, Program of Endocrinology, University of Bologna, Bologna, ItalySearch for other works by this author on:Domenica TaruscioDomenica TaruscioaNational Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, andSearch for other works by this author on:
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257 - 267: Achieving Diagnostic Certainty in Resource-Limited SettingsByInas Mazen;Inas MazenbNational Research Center, Cairo, EgyptSearch for other works by this author on:Jamal RazaJamal RazaaNational Institute of Child Health, Karachi, Pakistan;Search for other works by this author on:
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268 - 283: Global Application of Disorders of Sex Development-Related Electronic Resources: e-Learning, e-Consultation and e-Information SharingByMiriam Muscarella;Miriam MuscarellaaInternational-DSD Registry Steering Committee, Cambridge, Mass., USA;Search for other works by this author on:Laura Kranenburg-van Koppen;Laura Kranenburg-van KoppenbDepartment of Internal Medicine, Maasstad Ziekenhuis, Rotterdam,Search for other works by this author on:Kalinka Grijpink-van den Biggelaar;Kalinka Grijpink-van den BiggelaarcDivision Education and Student Support, Faculty EEMS, Delft University of Technology, Delft, andSearch for other works by this author on:Stenvert L.S. DropStenvert L.S. DropdDivision of Endocrinology, Department of Pediatrics, Sophia Children's Hospital/Erasmus MC, Rotterdam, The NetherlandsSearch for other works by this author on:
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284 - 292: International Networks for Supporting Research and Clinical Care in the Field of Disorders of Sex DevelopmentByS.F. Ahmed;S.F. AhmedaUniversity of Glasgow, Glasgow, UK;Search for other works by this author on:O. HiortO. HiortbUniversity of Lübeck, Lübeck, GermanySearch for other works by this author on: