Congenital Adrenal Hypoplasia (CAH): Diagnosis and Treatment

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 adrenal glands make 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.

How Do Doctors Treat CAH?

Treatment for CAH includes:

• Hormone replacement. This can include replacing cortisol alone or with aldosterone. Hormone replacement medications are given by mouth. It is very important to take them every day or your child can get very sick. Cortisol is usually replaced using a medication called hydrocortisone 3 times per day. After your child is done growing, some doctors will switch to other medications such as prednisone or dexamethasone. Aldosterone is usually replaced using a medication called fludrocortisone.
• Monitoring your child’s bone age. The care team will check your child’s bone maturity through an Xray of the left hand.
• In babies, salt replacement. Salt is replaced as a liquid or a pill. This (along with fludrocortisone) helps maintain normal salt levels in blood.

Where Can I Learn More About CAH?

• Your child’s care team at MGfC
• Endocrine Society Hormone Health Network
• National Institutes for Health
• The Magic Foundation

Learn More

• Symptoms and Causes

Rev. 3/2020. Mass General for Children and Massachusetts General Hospital do not endorse any of the brands listed on this handout. This handout is intended to provide health information so that you can be better informed. It is not a substitute for medical advice and should not be used to treatment of any medical conditions.