17-beta-hydroxysteroid dehydrogenase deficiency epidemiology and demographics: Difference between revisions

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{{17-beta-hydroxysteroid dehydrogenase deficiency}}
{{17-beta-hydroxysteroid dehydrogenase deficiency}}
{{CMG}}; {{AE}} {Abdulkerim}}
{{CMG}}; {{AE}} {{Abdulkerim}}
==Overview==
==Overview==
*Although the precise [[incidence]] of 17βHSD-3 deficiency is unknown, a recent study from the [[Netherlands]] estimated the incidence around 1 in 147,000 [[newborns]], with a calculated heterozygote frequency of 1 in 135.
Although the precise [[incidence]] of 17βHSD-3 deficiency is unknown, a recent study from the [[Netherlands]] estimated the incidence around 1 in 147,000 [[newborns]], with a calculated heterozygote frequency of 1 in 135.


==Epidemiology and Demographics==
==Epidemiology and Demographics==
*In the Netherlands, [[17-beta-hydroxysteroid dehydrogenase deficiency]] is estimated to occur 1:147.000 newborns.  
*In the [[Netherlands]], [[17-beta-hydroxysteroid dehydrogenase deficiency]] is estimated to occur 1:147.000 newborns.  
*It is more common in Gaza populations where it affects 1 in 200 to 300 people.
*17βHSD3 deficiency may show increased frequencies among [[populations]] with a high intermarriage rate such as in [[Gaza]], among whom [[intermarriage]] is frequent, the [[incidence]] is 1 in 200 to 300 people.
* The incidence of 17betaHSD3 deficiency is 0.65 times the [[incidence]] of [[AIS]], which is thought to be the most frequent known cause of male [[pseudohermaphroditism]] without [[dysgenic]] [[gonads]].<ref>{{cite journal |author=Boehmer A et al |title=17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations |journal=J Clin Endocrinol Metab |volume=84 |issue=12 |pages=4713-21 |year=1999 |pmid=10599740}}</ref>
* The incidence of 17betaHSD3 deficiency is 0.65 times the [[incidence]] of [[AIS]], which is thought to be the most frequent known cause of male [[pseudohermaphroditism]] without [[dysgenic]] [[gonads]].<ref>{{cite journal |author=Boehmer A et al |title=17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations |journal=J Clin Endocrinol Metab |volume=84 |issue=12 |pages=4713-21 |year=1999 |pmid=10599740}}</ref>



Latest revision as of 07:45, 20 October 2022

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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

Although the precise incidence of 17βHSD-3 deficiency is unknown, a recent study from the Netherlands estimated the incidence around 1 in 147,000 newborns, with a calculated heterozygote frequency of 1 in 135.

Epidemiology and Demographics

References

  1. Boehmer A; et al. (1999). "17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations". J Clin Endocrinol Metab. 84 (12): 4713–21. PMID 10599740.

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