<unk>  is a cause of 46,XY disorder of sex development (46,XY DSD) that presents in males with variable effects on genitalia which can be complete or predominantly female with a blind vaginal pouch. Testes are often found in the inguinal canal or in a bifid scrotum. Wolffian derivatives including the epididymides, vas deferens, seminal vesicles, and ejaculatory ducts are present. The autosomal recessive deficiency arises are a result of homozygous or compound heterozygous mutations in HSD17B3 gene which encodes the<unk><unk><unk> <unk>  enzyme, impairing of the conversion of 17-keto into 17-hydroxysteroids. The enzyme is involved in the last phase of steroidogenesis and is responsible for the conversion of androstenedione to testosterone and estrone to estradiol. Virilization of affected males still occurs at puberty.
17β-Hydroxysteroid dehydrogenase III deficiency
5α-Reductase 2 deficiency
Isolated 17,20-lyase deficiency
Cortisone reductase deficiency
Androgen-induced hermaphroditism
Aromatase deficiency
Gonadotropin-releasing hormone insensitivity
Multiple sulfatase deficiency