17-beta-hydroxysteroid dehydrogenase deficiency causes: Difference between revisions
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{{CMG}} {{AE}} {{Abdulkerim}} | {{CMG}} {{AE}} {{Abdulkerim}} | ||
==Overview== | ==Overview== | ||
HSD17B3 [[gene mutation]] causes 17-beta hydroxysteroid dehydrogenase deficiency results a decrease in [[ | 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== | ==Causes== | ||
*HSD17B3 [[gene mutation]] causes 17-beta hydroxysteroid dehydrogenase deficiency results a decrease in [[ | *HSD17B3 [[gene mutation]] causes 17-beta hydroxysteroid dehydrogenase deficiency results a decrease in [[testosterones]] production. | ||
*The reduction of | *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. | *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]]. | *The increase in [[testosterone]] level results in the [[development of]] [[male]] [[secondary]] [[sex]] characteristics in [[adolescents]]. | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
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[[Category:Endocrinology]] | [[Category:Endocrinology]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:needs english review]] | |||
Latest revision as of 07:44, 20 October 2022
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Differentiating 17-beta-hydroxysteroid dehydrogenase deficiency from other Diseases |
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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.