How is congenital adrenal hyperplasia diagnosed (CAH)?

How is congenital adrenal hyperplasia diagnosed (CAH)?

In the U.S., doctors screen all newborn babies for 21-hydroxylase deficiency before they leave the hospital. This screening determines whether a child has classic CAH.

In almost all cases, doctors diagnose classic CAH in infants and young children. Diagnosis of nonclassic CAH may not occur until a person begins to show symptoms of the disease. In some cases, this may not happen until early adulthood.

Some couples at higher risk, including those with family members diagnosed with CAH, may have genetic testing to determine the risk of passing on genetic mutations to their children.