17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency is a rare autosomal recessive disorder that impairs testosterone synthesis, leading to undervirilisation in 46,XY individuals. An individu Show more
17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency is a rare autosomal recessive disorder that impairs testosterone synthesis, leading to undervirilisation in 46,XY individuals. An individual in their early 20s, raised as female, developed male secondary sexual characteristics at puberty. Evaluation revealed a 46,XY karyotype. Hormonal and genetic analyses confirmed the diagnosis of 17β-HSD3 deficiency, showing the homozygous Show less