17-beta-hydroxysteroid dehydrogenase deficiency causes: Difference between revisions
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{{17-beta-hydroxysteroid dehydrogenase deficiency}} | {{17-beta-hydroxysteroid dehydrogenase deficiency}} | ||
{{CMG}} {{AE}} {{Abdulkerim}} | {{CMG}} {{AE}} {{Abdulkerim}} | ||
==Overview== | |||
HSD17B3 [[gene mutation]] causes 17-beta hydroxysteroid dehydrogenase deficiency results a decrease in [[testestrone]] production. The reduction of testestrone affects the development of [[male]] [[reproductive]] [[tract]] which results phenotypically female or [[ambigious external genitalia]] | |||
==Causes== | ==Causes== | ||
HSD17B3 [[gene mutation]] causes 17-beta hydroxysteroid dehydrogenase deficiency results a decrease in [[testestrone]] production. The reduction of testestrone affects the development of [[male]] [[reproductive]] [[tract]] which results phenotypically female or [[ambigious 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]]. | *HSD17B3 [[gene mutation]] causes 17-beta hydroxysteroid dehydrogenase deficiency results a decrease in [[testestrone]] production. | ||
*The reduction of testestrone affects the development of [[male]] [[reproductive]] [[tract]] which results phenotypically female or [[ambigious 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]]. | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Revision as of 10:25, 6 June 2022
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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 testestrone production. The reduction of testestrone affects the development of male reproductive tract which results phenotypically female or ambigious external genitalia
Causes
- HSD17B3 gene mutation causes 17-beta hydroxysteroid dehydrogenase deficiency results a decrease in testestrone production.
- The reduction of testestrone affects the development of male reproductive tract which results phenotypically female or ambigious 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.