Congenital adrenal hyperplasia

Adrenogenital syndrome; 21-hydroxylase deficiency

Genetic counseling is indicated for parents with a family history of congenital adrenal hyperplasia (of any type) or a family with a child who has the condition.

Prenatal diagnosis is available for some forms of congenital adrenal hyperplasia. Diagnosis is made in the first trimester by chorionic villus sampling and in the second trimester by measuring hormones such as 17-hydroxyprogesterone in the amniotic fluid.

A newborn screening test is available for the most common form of congenital adrenal hyperplasia and can be done on heelstick blood (as part of the routine screenings done on newborns). This test is not yet widely available.