17-beta-hydroxysteroid dehydrogenase deficiency physical examination: Difference between revisions

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{{17-beta-hydroxysteroid dehydrogenase deficiency}}
{{17-beta-hydroxysteroid dehydrogenase deficiency}}
{{CMG}}
{{CMG}}; {{AE}} {{Abdulkerim}}
==Overview==
==Overview==
On investigation ambiguous genitalia will eventually lead to findings of [[intersexuality]]. Severely impaired [[virilization]] (often complete absence of male sexual differentiation) can lead to development of female external genitalia. These females are often discovered when there is absence of menarche (first menstruation) and when they begin to virilize during puberty (slowly become more like a man; deepening of the voice, acne, male musculature etc). At careful examination, testis can often be found in the inguinal channel.
Majority of affected babies with 17-beta hydroxysteroid dehydrogenase 3 deficiency are born with [[external genitalia]] that appear female.
 
==Physical Examination==
*Majority of affected babies with 17-beta hydroxysteroid dehydrogenase 3 deficiency are born with external genitalia that appear female.
*In few cases, the external genitalia are [[ambiguous genitalia]]. Some other affected infants have male predominant [[external genitalia]], with small penis [[micropenis]] or [[hypospadias]]. During puberty, the affected individuals develop some male [[secondary sex characteristics]], such as [[increased muscle mass]], [[deepening of the voice]], and development of [[male pattern]] facial and body hair and [[gynecomastia]].<ref name="url17-beta hydroxysteroid dehydrogenase 3 deficiency: MedlinePlus Genetics">{{cite web |url=https://medlineplus.gov/genetics/condition/17-beta-hydroxysteroid-dehydrogenase-3-deficiency/ |title=17-beta hydroxysteroid dehydrogenase 3 deficiency: MedlinePlus Genetics |format= |work= |accessdate=}}</ref>
==References==
==References==
{{reflist|2}}
{{reflist|2}}
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{{WS}}
[[Category:Disease]]
[[Category:Disease]]
[[Category:Endocrinology and Metabolic Disease]]
[[Category:Endocrinology]]
[[Category:Genetic disorders]]
[[Category:Genetic disorders]]
[[Category:needs english review]]

Latest revision as of 07:48, 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

Majority of affected babies with 17-beta hydroxysteroid dehydrogenase 3 deficiency are born with external genitalia that appear female.

Physical Examination

References

  1. "17-beta hydroxysteroid dehydrogenase 3 deficiency: MedlinePlus Genetics".

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