ea0095p45 | Gonadal, DSD and Reproduction 1 | BSPED2023
Ahmed Khubaib
, Mushtaq Talat
17 β-Hydroxysteroid Dehydrogenase Type 3 (17β-HSD3) deficiency is an autosomal recessive condition causing 46, XY disorder of sexual development (DSD). The enzyme is responsible for converting of Δ4-Androstenedione (A) to testosterone (T) in testicles. Affected individuals may present with abnormalities of the external genitalia at birth or during childhood and teenage years with virilisation or primary amenorrhea. The aim of this case series is to review the cl...