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.
17-beta-hydroxysteroid dehydrogenase deficiency pathophysiology
Introduction
Overview
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
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.
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.
References
References
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Abdulkerim Yassin, M.B.B.S[2]