ESPE Abstracts

Background: Disorder of sex development (DSD) includes a wide spectrum of clinical disorders affecting gonadal and genital development. Many causative gene mutations are involved in these disorders. One of these genes is nuclear receptor subfamily 5 group A member 1 (NR5A1) encoding Steroidogenic factor-1 (SF-1) located on chr 9q33.3. This gene is expressed in many tissues such as Sertoli cell and Leydig cell in testes, ovaries, placenta, adrenal cortex, hypot...