5-alpha reductase deficiency

This is an autosomal recessive form of partial male pseudohermaphroditism where there is a deficiency of the type 2 form of the enzyme 5 alpha-reductase.

5 alpha-reductase catalyses the conversion of testosterone to dihydrotestosterone, a reaction that is essential for the virilization of the male embryo and for subsequent growth of tissues such as the prostate.

Reference

1. Nascimento RLP et al. Gender identity in patients with 5-alpha reductase deficiency raised as females. J Pediatr Urol. 2018 Oct;14(5):419.e1-419.e6.