hrp0097p2-41 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

5α-Reductase Type 2 Deficiency over three decades in a single center

Vicinanza Alfredo , Heinrichs Claudine , Ulgiati Fiorenza , Lambotte Isabelle , Boros Emese , Brachet Cécile

Female phenotype and sex reversal are often reported in 46,XY patients with 5α-Reductase Type 2 Deficiency (5αRD2). In case of late diagnosis, at puberty, virilization occurs. Over the years, sex assignment in case of early diagnosis evolved from female to male. We report four cases of 5αRD2, managed differently over three decades. All children presented with a female phenotype (EGS 3-4), palpable gonads, absent uterus, and 46,XY karyotype. All patients were ...