17 alpha-hydroxylase deficiency epidemiology and demographics: Difference between revisions
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{{ | {{17 alpha-hydroxylase deficiency}} | ||
{{CMG}}; {{AE}} {{ | {{CMG}}; {{AE}} {{MJ}} | ||
==Overview== | ==Overview== | ||
17 alpha-hydroxylase deficiency is a rare disease and from 2010, only 130 individuals with severe, confirmed disease had been documented. Worldwide [[incidence]] of 17 alpha-hydroxylase deficiency is low, especially compared with other forms of [[CAH]]. New cases of 17-hydroxylase deficiency continue to be reported. | |||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
=== Prevalence === | |||
* 17 alpha-hydroxylase deficiency is a rare disease. | |||
* Since 2010, only 130 individuals with severe, confirmed disease had been documented.<ref name="pmid20960109">{{cite journal |vauthors=Aydin Z, Ozturk S, Gursu M, Uzun S, Karadag S, Kazancioglu R |title=Male pseudohermaphroditism as a cause of secondary hypertension: a case report |journal=Endocrine |volume=38 |issue=1 |pages=100–3 |year=2010 |pmid=20960109 |doi=10.1007/s12020-010-9357-x |url=}}</ref> | |||
===Incidence=== | ===Incidence=== | ||
* | * Worldwide [[incidence]] of 17 alpha-hydroxylase deficiency is low, especially when compared with other forms of [[CAH]]. | ||
* New cases of 17-hydroxylase deficiency continue to be reported.<ref name="pmid24140098">{{cite journal |vauthors=Kim YM, Kang M, Choi JH, Lee BH, Kim GH, Ohn JH, Kim SY, Park MS, Yoo HW |title=A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation |journal=Metab. Clin. Exp. |volume=63 |issue=1 |pages=42–9 |year=2014 |pmid=24140098 |doi=10.1016/j.metabol.2013.08.015 |url=}}</ref> | |||
===Age=== | ===Age=== | ||
* Patients of all age groups may develop | * Patients of all age groups may develop 17 alpha-hydroxylase deficiency. The mean age of diagnosis is infancy and childhood. | ||
===Gender=== | ===Gender=== | ||
* | * 17 alpha-hydroxylase deficiency affects male and female equally. | ||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Latest revision as of 12:01, 23 October 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]
Overview
17 alpha-hydroxylase deficiency is a rare disease and from 2010, only 130 individuals with severe, confirmed disease had been documented. Worldwide incidence of 17 alpha-hydroxylase deficiency is low, especially compared with other forms of CAH. New cases of 17-hydroxylase deficiency continue to be reported.
Epidemiology and Demographics
Prevalence
- 17 alpha-hydroxylase deficiency is a rare disease.
- Since 2010, only 130 individuals with severe, confirmed disease had been documented.[1]
Incidence
- Worldwide incidence of 17 alpha-hydroxylase deficiency is low, especially when compared with other forms of CAH.
- New cases of 17-hydroxylase deficiency continue to be reported.[2]
Age
- Patients of all age groups may develop 17 alpha-hydroxylase deficiency. The mean age of diagnosis is infancy and childhood.
Gender
- 17 alpha-hydroxylase deficiency affects male and female equally.
References
- ↑ Aydin Z, Ozturk S, Gursu M, Uzun S, Karadag S, Kazancioglu R (2010). "Male pseudohermaphroditism as a cause of secondary hypertension: a case report". Endocrine. 38 (1): 100–3. doi:10.1007/s12020-010-9357-x. PMID 20960109.
- ↑ Kim YM, Kang M, Choi JH, Lee BH, Kim GH, Ohn JH, Kim SY, Park MS, Yoo HW (2014). "A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation". Metab. Clin. Exp. 63 (1): 42–9. doi:10.1016/j.metabol.2013.08.015. PMID 24140098.