Munson Health
Congenital Adrenal Hyperplasia

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by Stresing D




Testing may be done during pregnancy, just after birth, or after symptoms develop.
Testing may be done during pregnancy if there is a family history of CAH, especially if a sibling has the disease. Small samples of tissue or amniotic fluid may be removed for testing. The samples are taken by one of the following:
In the United States, all newborn children are screened for CAH. The test involves a heelstick to draw some blood. The blood will be examined for hormone levels.
To diagnose CAH in older children or in those that were not screened as newborns, you will be asked about your child’s symptoms and medical history. A physical exam will be done. Your doctor may take a small amount of blood and urine to test for hormone levels. This is often enough to make the diagnosis.
If the tests are not clear, genetic tests may be ordered. This is done with blood tests.


You and your child may be referred to a specialist. Talk with your doctor about the best treatment plan. With treatment, your child can have a normal life. Treatment options include:

Prenatal Treatment

If CAH is found before birth, medication may be used to lower the level of androgens. It may allow normal development of female genitalia. It does not stop CAH from developing.
The medication may be taken as a pill or liquid by the mother.

Dietary Changes

Missing aldosterone can cause a condition called salt wasting. This is a problem maintaining the correct amount of salt in the blood. It can lead to low blood pressure and a high potassium level in the blood. If you have salt wasting, you may need to add table salt to your diet.


Most children born with CAH need to take hormone replacement medications. These steroid medications will replace the missing hormones. The exact types of steroid will depend on your child's condition. The medication will also help slow the production of androgens. This will reduce the development of male features in girls.
Cortisol is needed during stressful situations and illness. If you are taking medication to replace cortisol, you may need extra doses during stressful events. This can include surgeries or illnesses. Your doctor will make a medication plan with you.
Depending on the type of CAH, medication may need to be taken for the rest of your child's life.
Wear a medical alert bracelet that states adrenal insufficiency. This will let others know of your condition if you are unable to communicate.


Surgery can correct unusually formed genitalia. It is often done when the child is between 1-3 years of age.


Congenital Adrenal Hyperplasia Education and Support Network

Congenital Adrenal Research Education and Support Foundation



SickKids—The Hospital for Sick Children

Save Babies Through Screening Foundation of Canada



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