46,XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency: a plea for timely genetic testing

17β-hydroxysteroid dehydrogenase type 3 (17βHSD3) deficiency is a rare cause of disorder of sex development (DSD) due to impaired conversion of androstenedione to testosterone. Traditionally, the diagnosis was...

Source: International Journal of Pediatric Endocrinology - June 15, 2016 Category: Endocrinology Authors: Chelsey Grimbly, Oana Caluseriu, Peter Metcalfe, Mary M. Jetha and Elizabeth T. Rosolowsky Source Type: research