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.

Cytogenomic description of a Mexican cohort with differences in sex development

“…Studies indicate a global DSD frequency of 1:4500–5500 using the atypical genitalia criteria, but this can increase to 1:200–300 when the description of cases includes congenital anomalies of the genitals, such as cryptorchidism or hypospadias [ 6 ]. The estimated incidence of chromosomal DSDs is 1:2,500 live infant girls for patients with Turner syndrome and 1:500 live boy births for patients with Klinefelter syndrome [ 2 , 14 ]. Regarding patients with DSD and karyotype 46, XY, the overall incidence is 1:20,000 births; for patients with ovotesticular DSD, a frequency of 1:100,000 has been estimated [ 15 , 16 ].…”