Testing may be done during pregnancy, just after birth, or after symptoms happen.
Testing may be done during pregnancy if there is a family history of CAH, such as if the baby’s brother or sister has the disease. Tissue or amniotic fluid may be taken for testing. This can be done with:
In the US, all newborn children are screened for CAH. This is done using a small sample of blood from the baby’s heel. The blood will be checked for hormone levels.
To diagnose older children or those who were not screened, you will be asked about your child’s symptoms and health history. A physical exam will be done. Your doctor may take a small amount of blood and urine to test hormone levels.
If the tests are not clear, genetic tests may be done. This is done with blood tests.
There is no cure. The goal of treatment is to replace missing hormones and reduce excess androgen. Your child will need to see a doctor who treats hormone problems to do this. Treatment choices are:
Lower androgen levels—may also be given to the mother during pregnancy
Replace cortisol, especially during stressful events and illnesses
Lifestyle changes, such as eating salty foods to replace missing salt in the body due to low levels of aldosterone
Surgery to correct unusually formed genitalia
There are no known guidelines to prevent this health problem.
Congenital adrenal hyperplasia. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/congenital-adrenal-hyperplasia. Accessed November 3, 2020.
Nimkarn S, New MI. 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia. GeneReviews 2016 Feb 4.
Last reviewed September 2020 by EBSCO Medical Review Board
Kari Kassir, MD
Last Updated: 5/7/2021
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