Patient Guide
Congenital Adrenal Hyperplasia, also referred to as CAH, is a genetic disorder in which the two adrenal glands do not function properly because of mutations in the gene encoding adrenal steroid 21-hydroxylase, which is an enzyme. Without this enzyme, the adrenal glands may produce too little cortisol and/or aldosterone and too much androgen. Children can inherit an abnormal copy of the gene from each of their parents.
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