17-beta-hydroxysteroid dehydrogenase deficiency pathophysiology

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.

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.

References

Overview