What is the most common form of congenital adrenal hyperplasia (CAH)?

Updated: Oct 06, 2020
  • Author: Thomas A Wilson, MD; Chief Editor: Sasigarn A Bowden, MD  more...
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Answer

The most common form of congenital adrenal hyperplasia is due to mutations or deletions of CYP21A, resulting in 21-hydroxylase deficiency. This deficiency accounts for more than 90% of adrenal hyperplasia cases. Mutations or partial deletions that affect CYP21A are common, with estimated frequencies as high as 1 in 3 individuals in selected populations (eg, Ashkenazi Jews) to 1 in 7 individuals in New York City. The estimated prevalence is 1 case per 60 individuals in the general population.


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