17-beta-hydroxysteroid dehydrogenase deficiency pathophysiology: Difference between revisions
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{{17-beta-hydroxysteroid dehydrogenase deficiency}} | {{17-beta-hydroxysteroid dehydrogenase deficiency}} | ||
{{CMG}} {{AE}} {{Abdulkerim}} | {{CMG}} {{AE}} {{Abdulkerim}} | ||
==Overview== | |||
==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]] 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). | ||
Revision as of 18:19, 9 May 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
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).
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.