17-beta-hydroxysteroid dehydrogenase deficiency causes

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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

HSD17B3 gene mutation causes 17-beta hydroxysteroid dehydrogenase deficiency results a decrease in testosterones production. The reduction of testosterones affects the development of male reproductive tract which results phenotypically female or ambiguous external genitalia.

Causes

• HSD17B3 gene mutation causes 17-beta hydroxysteroid dehydrogenase deficiency results a decrease in testosterones production.
• The reduction of testosterones affects the development of male reproductive tract which results phenotypically female or ambiguous external genitalia.
• At puberty, in some of affected individuals, the production of testosterone rises through conversion of androstenedione to testosterone in different tissues of the body involving other enzymes.
• The increase in testosterone level results in the development of male secondary sex characteristics in adolescents.