ea0037ep116 | Steroids, development and paediatric endocrinology | ECE2015
Engeli Roger
, Rhouma Bochra Ben
, Sager Christoph R
, Fakhfakh Faiza
, Keskes Leila
, Vedani Angelo
, Belguith Neila
, Odermatt Alex
17β-Hydroxysteroid dehydrogenase type 3 (encoded by HSD17B3) catalyses the conversion of Δ4-androstene-3.17-dione to testosterone and has a key role in male sexual development. Mutations in the HSD17B3 gene can result in reduced enzyme activity and decreased testosterone synthesis, leading to a rare autosomal recessive aetiology of 46, XY Disorders of Sex Development (46, XY DSD) named 17β-HSD3 deficiency. Here, we characterised three Tunisian ...