5-alpha-reductase deficiency pathophysiology

The 5-alpha reductase enzyme is responsible for converting testosterone to dihydrotestosterone (DHT) which is a more potent form playing major roles in male sexual development. While Testosterone leads the development of internal male genitalia, DHT develops the external male genitalia. Children with 5-alpha reductase deficiency suffers from defective external genitalia and ambiguous genitalia.

5-alpha-reductase is an enzyme that converts testosterone to dihydrotestosterone (DHT) in peripheral tissues. 5-alpha-reductase deficiency-2 is biochemically characterized by low to low normal levels of testosterone and decreased levels of 5α-DHT, creating a higher testosterone/DHT ratio.

DHT is a potent androgen, necessary for the development of male external genitalia in utero.

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