The epidemiology of disorders of sex development.

During recent years the epidemiology of disorders of sex development (DSD) has been more clearly delineated. Here, we provide a detailed and up-to-date synopsis of the epidemiology of DSD, incorporating the latest body of knowledge in the field for sex chromosome DSD (Turner, Klinefelter, 47,XXX, and 47,XXY syndrome, and 45,X/46,XY mosaicism) as well as for 46,XX DSD and 46,XY DSD focusing on females with congenital adrenal hyperplasia (CAH), males with 46,XX DSD, females with Mayer-Rokitansky-Küster-Hauser syndrome and females with 46,XY DSD. Despite not fitting directly within the Chicago Consensus classification for DSD, we also include the few epidemiological studies addressing ambiguous genitalia. We show that epidemiological studies have improved our understanding of DSD and led to sound estimates of prevalence, have detailed morbidity and mortality patterns and have for some conditions also shed light on the impact on socioeconomic achievements.