A baby girl is born with ambiguous genitalia and diagnosed with severe classical congenital deficiency of adrenal 21-hydroxylase enzyme. Without any treatment, which of the following would you expect in the girl's future?

Question

Quizplus · Accepted Answer

Without treatment, a deficiency in 21-hydroxylase leads to salt-wasting crises due to the inability to produce sufficient aldosterone, resulting in loss of sodium.  Because CYP21A2 is also needed for the synthesis of aldosterone, which is a major hormone involved in Na+ retention by the kidney, there is excessive salt loss leading to hyponatremic dehydration which can be fatal if not treated. Although there is some aldosterone made, the level of salt loss exceeds the ability of the adrenal cortex to make sufficient aldosterone to compensate. The net result is an acute adrenal crisis.

A Baby Girl Is Born with Ambiguous Genitalia and Diagnosed