17-beta-hydroxysteroid dehydrogenase deficiency epidemiology and demographics: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{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. | |||
==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. | ||
* | *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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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
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
- In the Netherlands, 17-beta-hydroxysteroid dehydrogenase deficiency is estimated to occur 1:147.000 newborns.
- 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.[1]