hrp0089p3-p400 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Clinical and Molecular Characterization of One Nr5a1 Gene Mutation Found in a Patient WITH 46, XY DSD

Vela Amaya , Lapiscina Idoia Martinez De , Nanclares Gustavo Perez De , Amaia Rodriguez , Rica Itxaso , Castano Luis , Grau Gema

Introduction: Steroidogenic factor-1 (SF1), encoded by the NR5A1 gene, regulates several genes involved in male sexual determination, such as SOX9 and AMH, cholesterol mobilization and synthesis of a number of steroidogenic enzymes, like 3╬▓HSD, and androgen biosynthesis, like INSL3. Mutations in NR5A1 have been associated to a broad phenotypic spectrum in 46, XY subjects, including pure gonadal dysgenesis, infertility, anorchia...