5-alpha-reductase deficiency pathophysiology

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

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.

Pathophysiology

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.

Biochemical effects of 5-alpha-reductase deficiency-2 in testosterone biosynthesis. Typically levels of testosterone are elevated, while levels of DHT are significantly decreased, leading to male undervirilization.

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

References

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