Laboratory testing can help aid in the detection of congenital adrenal hyperplasia (CAH).
CAH testing is part of newborn screening. Newborn screening tests include testing for disorders caused by enzyme deficiencies, such as phenylketonuria and galactosemia. In the testing for CAH, the presence or absence of 21-hydroxylase is detected.
Prenatal screening can also be done, if necessary, by testing amniotic fluid and chorionic villi sampling. This may include genetic testing to look for mutations in CYP21A2 group genes.
Shortly after birth, blood and urine tests for adrenal gland hormones (cortisol, ACTH, testosterone, CRH) can also be performed.
