Congenital adrenal hyperplasia

Alternative names:

adrenogenital syndrome

Prevention:

Genetic counseling is indicated for parents with a family history of adrenogenital syndrome (of any type) or a family with a child who has adrenogenital syndrome.

Prenatal diagnosis is available for some forms of adrenogenital syndrome. It is accomplished 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 adrenogenital syndrome which can be done on heelstick blood (can be done as part of the routine
PKU/thyroid/hemoglobin/etc. screens done on newborn infants. This test is not yet widely available.