Kutney Katherine, Konczal Laura, Kaminski Beth, Uli Naveen
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.
Birth Defects Res C Embryo Today. 2016 Dec;108(4):293-308. doi: 10.1002/bdrc.21147.
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.
性发育障碍（DSD）是一系列罕见但非常复杂的疾病，对受其影响的人具有医学、性心理和家庭方面的影响。这些疾病的诊断和管理需要一个由多个专科医生组成的协调团队。2005年在芝加哥召开国际会议后，制定并发表了一份共识声明，这导致了DSD在命名、分类和管理方面的新范式。自那时以来，出现了许多改进，最显著的是在分子遗传技术领域。这些进展增进了我们对许多此类病症潜在具体病因的理解。在本文中，我们概述了性发育的生理学，介绍一些突出特定病理状况的临床案例，讨论这些疾病的评估和管理，并对该领域的未来方向提出一些想法。《出生缺陷研究》（C部分）108:293 - 308，2016年。© 2016威利期刊公司。
