Apparently Normal Ovarian Differentiation in a Prepubertal Girl with Transcriptionally Inactive Steroidogenic Factor 1 (NR5A1/SF-1) and Adrenocortical Insufficiency

Five novel mutations in steroidogenic fa

Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency

✍ Birgit Köhler; Lin Lin; Bruno Ferraz-de-Souza; Peter Wieacker; Peter Heidemann; 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 266 KB

Steroidogenic factor 1 (SF1, __NR5A1__) is a nuclear receptor that regulates multiple genes involved in adrenal and gonadal development, steroidogenesis, and the reproductive axis. Human mutations in SF1 were initially found in two 46,XY female patients with severe gonadal dysgenesis and primary adr