hrp0092p3-226 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Rare Cause of 46,XY Sexual Development Disorder: 17β-Hydroxysteroid Dehydrogenase Type 3 Deficiency

Manyas Hayrullah , Eroğlu Filibeli Berna , Ayranci İlkay , Saka Güvenç Merve , Nuri Dündar Bumin , Çatli Gönül

Introduction: 17β-hydroxysteroid dehydrogenase type 3 (17βHSD3) enzyme deficiency is a rare cause of 46 XY disorder of sexual development. It is inherited autosomal recessively and clinical phenotype is highly heterogeneous and depends on the mutation severity. Conversion of androstenedione to testosterone deteriorates due to lack of enzyme.Objective: In this case report, we present a case who was born en...