Congenital adrenal hyperplasia (CAH) is a group of genetic problems that affect the adrenal glands. These glands sit on top of each kidney. The glands may have trouble making these hormones:
The adrenal gland may also make too much of a hormone called androgen. Both boys and girls have this hormone. It helps male features develop.
CAH is a genetic disorder. It is passed from the parents to the child.
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The risk of this problem is higher in children who have other family members with CAH.
Symptoms depend on the gender of the child and the type of CAH the child has. Problems may be:
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:
There are no known guidelines to prevent this health problem.
Congenital Adrenal Hyperplasia Education and Support Network
About Kids Health—The Hospital for Sick Children
Caring for Kids—Canadian Paediatric Society
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