Congenital Adrenal Hyperplasia (CAH)

Mild CAH should be considered in a person presenting with fainting spells, severe acne, mild hyperpigmentation, and or frequent infections or infections which do not resolve normally. If the person is female, an enlarged clitoris or facial hair may provide additional clues.

Hormone measurements, combined with clinical evaluation (including history and physical examination) are the traditional methods of diagnosing congenital adrenal hyperplasia (CAH).

A number of states in the U.S. as well as several foreign countries, now perform a hormonal test for CAH within the first few days of life. These heel-prick blood specimens are obtained at the time when blood is drawn for thyroid tests and a number of other inherited diseases.