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Health Dictionary

Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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5-alpha-reductase deficiency pathophysiology

Introduction

Overview

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

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

References

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