Prevalence

Most enzyme deficiencies that cause CAH are extremely rare, except for 21-hydrox-ylase deficiency and 11-hydroxylase deficiency. The prevalence of classic 21-hydroxy-lase deficiency worldwide is 1/10.000 to 1/18.000, as derived from results of neonatal screening. Nonclassic 21-hydroxylase deficiency is estimated to be more prevalent (1/600), but this diagnosis can easily be missed in men because signs of androgen excess may go unrecognized. The estimated prevalence of 11-hydroxylase deficiency is 1/100.000 (1).

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