17-beta-hydroxysteroid dehydrogenase deficiency pathophysiology: Difference between revisions

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{{CMG}} {{AE}} {{Abdulkerim}}
{{CMG}} {{AE}} {{Abdulkerim}}
==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]] and 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]] (A'dion/T) (see figure).
*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]].
[[Image:Test biosynth 17BHSD3.jpg|thumb|center|600px| Biochemical effects of 17β-hydroxysteroid deficiency-3 in testosterone biosynthesis. Typically levels of androstenedione are significantly increased, whilst testosterone levels are decreased, leading to male [[undervirilization]].]]
[[Image:Test biosynth 17BHSD3.jpg|thumb|center|600px| Biochemical effects of 17β-hydroxysteroid deficiency-3 in testosterone biosynthesis. Typically levels of androstenedione are significantly increased, whilst testosterone levels are decreased, leading to male [[undervirilization]].]]
=== Genetics ===
=== Genetics ===
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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

17-beta-hydroxysteroid dehydrogenase deficiency Microchapters

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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

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

Biochemical effects of 17β-hydroxysteroid deficiency-3 in testosterone biosynthesis. Typically levels of androstenedione are significantly increased, whilst testosterone levels are decreased, leading to male undervirilization.

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.

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