title: Challenges in the diagnosis and management of disorders of sex development.
abstract: Disorders of sex development (DSD) represent a spectrum of uncommon but very complex disorders with medical, psychosexual, and family implications for those affected by them. The diagnosis and management of these disorders requires a coordinated team of multiple specialists. Following an international conference in Chicago in 2005, a consensus statement was created and presented, which has resulted in a new paradigm in the nomenclature, classification, and management of DSDs. Since that time, many improvements have been forthcoming, most notably in the area of molecular genetic technologies. These developments have advanced our understanding of the specific etiologies underlying many of these conditions. In this article, we present an overview of the physiology of sex development, a few clinical vignettes highlighting specific pathologic conditions, discussions regarding the evaluation and management of these disorders, and some thoughts on future directions in this field. Birth Defects Research (Part C) 108:293-308, 2016. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Katherine Kutney, Beth Kaminski, and Naveen Uli are from the Division of Pediatric Endocrinology & Diabetes, University Hospitals/Rainbow Babies & Children's Hospital, Cleveland, Ohio.|Katherine Kutney, Laura Konczal, Beth Kaminski, and Naveen Uli are from the Department of Pediatrics, Case Western Reserve University.
authors.forename: Katherine
authors.initials: K
authors.lastname: Kutney
authors.affiliation: Laura Konczal is from the Department of Human Genetics, University Hospitals/Rainbow Babies & Children's Hospital, Cleveland, Ohio.|Katherine Kutney, Laura Konczal, Beth Kaminski, and Naveen Uli are from the Department of Pediatrics, Case Western Reserve University.
authors.forename: Laura
authors.initials: L
authors.lastname: Konczal
authors.affiliation: Katherine Kutney, Beth Kaminski, and Naveen Uli are from the Division of Pediatric Endocrinology & Diabetes, University Hospitals/Rainbow Babies & Children's Hospital, Cleveland, Ohio.|Katherine Kutney, Laura Konczal, Beth Kaminski, and Naveen Uli are from the Department of Pediatrics, Case Western Reserve University.
authors.forename: Beth
authors.initials: B
authors.lastname: Kaminski
authors.affiliation: Katherine Kutney, Beth Kaminski, and Naveen Uli are from the Division of Pediatric Endocrinology & Diabetes, University Hospitals/Rainbow Babies & Children's Hospital, Cleveland, Ohio.|Katherine Kutney, Laura Konczal, Beth Kaminski, and Naveen Uli are from the Department of Pediatrics, Case Western Reserve University.
authors.forename: Naveen
authors.initials: N
authors.lastname: Uli
mesh_terms: D012734:Disorders of Sex Development / Q000175:diagnosis* / Q000209:etiology; D006801:Humans; D046468:Sexual Development / Q000502:physiology*
keywords: NR5A1; SRY; adrenal hyperplasia; disorders of sex development; gonadal dysgenesis