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Congenital adrenal hyperplasia (CAH) is the medical name for a group of genetic conditions that affect the adrenal glands. The adrenal glands are a pair of walnut-sized organs above the kidneys. They make important hormones, including:
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Symptoms of CAH vary. The symptoms depend on which gene is affected. They also depend on how greatly the adrenal glands lack one of the enzymes needed to make hormones. With CAH, the hormones that the body needs to work properly are thrown out of balance. That may lead to too little cortisol, too little aldosterone, too many androgens or a mix of these issues.
Symptoms of classic CAH can include:...
The most common cause of CAH is the lack of the enzyme protein known as 21-hydroxylase. Sometimes, CAH is called 21-hydroxylase deficiency. The body needs this enzyme to make proper amounts of hormones. Very rarely, a lack of other much rarer enzymes also can cause CAH.
CAH is a genetic condition. That means it's passed from parents to children. It's present at birth. Children with the condition have two parents who both carry the genetic change that causes CAH. Or they have two parents who have CAH thems...
For children, a healthcare professional likely will make a referral to a specialist in childhood hormonal issues. This specialist is called a pediatric endocrinologist. For adults, a referral often is made to an adult endocrinologist. The treatment team also may include other healthcare professionals such as:
There is no known way to prevent CAH. If you're thinking of starting a family and you're at risk of having a child with CAH, talk with your healthcare professional. You may be told to see a genetic counselor.
For informational purposes only and not a substitute for professional medical advice, diagnosis, or treatment.
© Mayo Clinic
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