5alpha-reductase deficiency

Last reviewed 11/2022

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.