How Do Doctors Diagnose Congenital Adrenal Hypoplasia (CAH)?
In most cases, the newborn screening test will help diagnose CAH at birth. If the care team thinks your child might have CAH on the newborn screening, they might do another blood test. The blood test checks for a hormone called 17-hydroxyprogesterone (17-OHP).
If your child has high levels of 17-OHP in the blood, the care team might have your child do an ACTH stimulation test. This test measures how well your child’s body makes cortisol when your child is given cosyntropin, an artificial form of ACTH.
If CAH runs in your family, doctors can also diagnose CAH through genetic testing.