hrp0095p1-183 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Testicular sperm extraction in a patient with a new pathogenic NR5A1 (SF-1) variant : p.Phe70Serfs*5

Teoli Jordan , Mallet Delphine , Renault Lucie , Gay Clair-Lise , Lornage Jacqueline , Bertrand Anne-Marie , François Murielle , Theret Claire , Giscard d'Estaing Sandrine , Cuzin Béatrice , Dijoud Frédérique , Roucher-Boulez Florence , Plotton Ingrid

Background: Steroidogenic Factor 1 (SF-1), encoded by NR5A1 (Nuclear receptor subfamily 5 group A member 1) gene, is a transcriptional factor that is primordial for adrenal and gonadal organogenesis. Pathogenic variants of NR5A1 are responsible for a wide spectrum of phenotypes with autosomal dominant inheritance, from adrenal insufficiency to gonadal dysgenesis and oligospermia-azoospermia in 46,XY patients.Obj...