17-beta-hydroxysteroid dehydrogenase deficiency pathophysiology: Difference between revisions
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==Overview== | ==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). | ||
[[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 === | ||
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. | 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]]. | ||
==References== | ==References== | ||
Revision as of 07:48, 22 January 2022
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17-beta-hydroxysteroid dehydrogenase deficiency Microchapters |
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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]
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.