Congenital adrenal hyperplasia refers to a group of genetic disorders that affect the adrenal glands. These glands sit on top of the kidneys and release hormones the body needs to function. CAH creates imbalances in these hormones, which cause a wide range of symptoms in infants, children, and adults.
1,093,310 newborns were screened between 1980 and 1988, of whom 77 had congenital adrenal hyperplasia. Thus, worldwide incidence of this disorder was estimated at 1:14,199 live births for homozygous patients, 1:60 for heterozygous subjects, with a gene frequency of 0.0083. Incidence of congenital adrenal hyperplasia among whites was estimated to be 1:11,909 (41:488,279) for homozygous patients, 1:55 for heterozygous subjects with a gene frequency of 0.0091.