Endocrine Abstracts

The Nuclear Receptor Subfamily 5A member, Steroidogenic Factor 1 (SF-1, Ad4BP, NR5A1), is critical for steroidogenesis, stress responses, sexual differentiation and body weight regulation in mice. Patients with rare mutations in SF-1 have confirmed its role in male sexual differentiation and adrenal response to physiological stress in humans. In contrast, Liver Receptor Homologue 1 (LRH-1, FTF, CPF, NR5A2) is involved in endoderm development, bile acid and lipid metabolism and...