Congenital Adrenal Hyperplasia (CAH):
Diagnosis and Medications
How is CAH diagnosed?
The health care team uses newborn screening to test for rare but serious (life-threatening or life-limiting) conditions in new babies. All 50 states test newborns for CAH along with other serious conditions. By diagnosing CAH so early, these babies can start treatment before they get sick. The test uses a blood sample from a heel prick taken soon after birth.
Newborn screening only goes so far. Sometimes the test is positive for a disease when the baby is healthy. That’s why if the newborn screen test for CAH is positive, it means more testing is needed. More testing and seeing a pediatric endocrinologist will make sure the diagnosis is right. Newborn screening does not detect all cases of non-classic (late-onset) CAH.
What is the treatment for CAH?
There is no cure for CAH, but there are treatments that work very well. Kids with Classic CAH need medication every day. These medications are the hormones they need to balance their fluids and respond to illness or injury. By receiving these in the proper amount, the adrenal gland will also not produce too much androgen.
Standard medications for the different types of CAH:
- Salt-wasting CAH: Hydrocortisone (Cortef) to replace the cortisol and fludrocortisone(Florinef)to replace the aldosterone; may also need salt tablets.
- Simple-virilizing CAH (non salt-wasting CAH): Hydrocortisone to replace the cortisol
- Non-classic CAH: Low-dose hydrocortisone or no hormone medication at all. May need treatment later to prevent early puberty.
Caregivers also need to take precautions in an emergency. If the child is seriously injured or gets sick, they may need an injection of cortisol and to go to the emergency room. Some examples of this are broken bones, severe injuries, high fever, severe vomiting or diarrhea, and other major health issues. People with CAH should wear a Medic-Alert bracelet stating “Adrenal Insufficiency.” Then, in an emergency, responders will know that the child needs fast-acting cortisol treatment. Call 1-888-633-4298 for information about Medic-Alert IDs for children.
Written and compiled by Kyla Boyse, RN and Talyah Sands. Reviewed by David E. Sandberg, Ph.D.