Tue16November0750PM 4

Are the following true or false in congenital adrenal hyperplasia (CAH)?

True / False

Severe hypoglycaemia may occur Correct

Adrenal crisis may occur within a few days of birth Correct

21-hydroxylase deficiency is the commonest variety Correct

Blood 17-hydroxyprogesterone concentrations are greatly increased Incorrect answer selected

Virilisation may be prevented by glucocorticoid treatment Incorrect answer selected

Explanation

CAH is due to 21-hydroxylase deficiency in over 90% of cases.

Early treatment (in vivo treatment with steroids for the mother is used) may prevent virilisation of the female fetus.

Salt losing adrenal crisis is well recognised in the classic variety of the disease with severe hyponatraemia, hypotension and hypoglycaemia from birth onwards.

21-hydroxylase is one of the enzymes responsible for the conversion of 17-OHP to cortisol and aldosterone. Consequently this metabolite is found in excess in CAH.

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