IMPE Abstracts

Background: Steroidogenic factor 1 (SF-1/NR5A1) is a nuclear receptor that regulates sex development, steroidogenesis and reproduction. Genetic variants in SF-1/NR5A1 are common among differences of sex development (DSD) and associate with a wide range of phenotypes, but their pathogenic mechanisms remain unclear. We aimed at characterizing novel missense, likely disease-causing SF-1/NR5A1 variants in a large cohort of DSD individual...