Endocrine Abstracts

Since the discovery of SRY as the main testis-determining gene more than 25 years ago, at least 30 other single gene conditions have been identified that can result in differences/disorders in sex development (DSD). Some of these are associated with ‘classic’ steroidogenic blocks or related conditions such as CAH, whereas others are associated with alterations in gonad determination and development. Reaching a specific genetic diagnosis can have implications...