Symptoms of classic CAH due to 21-hydroxylase deficiency (95% of classic CAH cases) can be grouped into two types according to their severity: salt wasting and simple virilizing (also called non-salt wasting).
Symptoms of classic CAH due to 11-hydroxylase deficiency (5% of classic CAH cases) are similar to those of simple virilizing CAH. About two-thirds of people with classic 11-hydroxylase deficiency also have high blood pressure (hypertension).1
Even when carefully treated, children with salt-wasting CAH are still at risk for adrenal crises when they become ill or are under physical stress. The body needs more than the usual amount of adrenal hormones during illness, injury, or physical stress. This means a child with CAH must be given more medication during these times to prevent an adrenal crisis.
Almost all cases of nonclassic CAH are caused by a mild 21-hydroxylase deficiency. Most symptoms of nonclassic CAH are related to increased androgens. Symptoms can show up in childhood, adolescence, or early adulthood.2
Symptoms of nonclassic CAH can include:
Some people have nonclassic CAH and never know it because the symptoms are so mild.1,2,3,4,5,6
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