A number of factors have contributed to a sharp increase in the number of publications related to disorders of sex development (DSD) in the past 5 years, namely: the establishment of a consensus in 2006 about nomenclature, investigations and the need to treat these patients in a multidisciplinary setting; increase of the knowledge base about genetic mechanisms of normal and abnormal sex development; critical appraisal about the timing and nature of genital surgery in patients with DSD. Herein, the authors present a comprehensive review with up-to-date data about the approach to the newborn with ambiguous genitalia as well as the diagnosis and management of the most common DSD.
Copyright © 2012. Published by Elsevier Inc.