17-beta-hydroxysteroid dehydrogenase deficiency pathophysiology

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Abdulkerim Yassin, M.B.B.S[2]

Overview

17-beta-hydroxysteroid dehydrogenase deficiency-3 is biochemically characterized by decreased levels of testosterone and increased levels of androstenedione as a result of the defect in conversion of androstenedione into testosterone.

Pathophysiology

• 17-beta-hydroxysteroid dehydrogenase deficiency-3 is biochemically characterized by;
• Decreased levels of testosterone.
• Increased levels of androstenedione as a result of the defect in conversion of androstenedione into testosterone.
• This leads to clinically important higher ratio of androstenedione to testosterone.

Biochemical effects of 17β-hydroxysteroid deficiency-3 in testosterone biosynthesis. Typically levels of androstenedione are significantly increased, whilst testosterone levels are decreased, leading to male undervirilization.

Genetics

17-beta-hydroxysteroid dehydrogenase deficiency-3 is caused by gene mutations found in the 17BHSD3 gene. 17-beta-hydroxysteroid dehydrogenase deficiency-3 is an autosomal recessive disorder.