17 alpha-hydroxylase deficiency epidemiology and demographics

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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

  1. 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.
  2. 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.



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