Congenital adrenal hyperplasia epidemiology and demographics

Congenital adrenal hyperplasia main page
Overview
Classification 21-hydroxylase deficiency
11β-hydroxylase deficiency
17 alpha-hydroxylase deficiency
3 beta-hydroxysteroid dehydrogenase deficiency
Cytochrome P450-oxidoreductase (POR) deficiency (ORD)
Lipoid congenital adrenal hyperplasia
Differential Diagnosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]

Epidemiology and Demographics

• The disorder in the most classical form is thought to affect approximately 1 in 15-30,000 patients. Milder forms of the disease are estimated to occur in as many as 1 in 100-1000 patients. 90% of CAH is due to a complete or partial deficiency in 21-hyroxylase. 5-8% of CAH is due to deficiency in 11-hydroxylase. In rare instances, 17-alpha-hydroxylase and 3-beta-hydroxysteroid dehydrogenase deficiency can lead to CAH. Certain ethnic groups are thought to be at increased risk such as Yupik Eskimos and Jews of Moroccan ancestry.

References

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