17-beta-hydroxysteroid dehydrogenase deficiency pathophysiology: Difference between revisions
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{{17-beta-hydroxysteroid dehydrogenase deficiency}} | {{17-beta-hydroxysteroid dehydrogenase deficiency}} | ||
{{CMG}} | {{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 | *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 === | |||
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== | ||
{{reflist|2}} | {{reflist|2}} | ||
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{{WS}} | {{WS}} | ||
[[Category:Disease]] | [[Category:Disease]] | ||
[[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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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] 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
- 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.
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.