Diseases and Conditions

Congenital adrenal hyperplasia

Causes

The most common cause of CAH is the lack of the enzyme known as 21-hydroxylase. CAH may sometimes be called 21-hydroxylase deficiency. There are other much rarer enzyme deficiencies that also cause CAH.

Children who have the condition have two parents who either have CAH themselves or who are both carriers of the genetic mutation that causes the condition. This is known as the autosomal recessive inheritance pattern.

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