Endocrine Abstracts

The nuclear receptor SF1/NR5A1 regulates transcription of genes involved in reproduction, steroidogenesis and male sexual differentiation. Mutations in humans cause gonadal dysgenesis with or without adrenal failure in both 46,XY and 46,XX individuals. In a cohort of patients with familial 46,XY DSD, we identified 6 heterozygous NR5A1 mutations in 19 subjects from 5 unrelated families (F1-F5). Moreover, a de novo heterozygous mutation in one patient with 46,XY DSD and no affec...