Congenital adrenal hyperplasia (pronounced kuhn-JEN-i-tl uh-DREEN-uhl hahy-per-PLEY-zhuh), or CAH, refers to a group of genetic disorders that affect the adrenal glands. These glands sit on top of the kidneys and release hormones the body needs to function. CAH creates imbalances in these hormones, which cause a wide range of symptoms in infants, children, and adults.
Most commonly, CAH causes male-like characteristics (such as excessive hair growth in girls/women, early hair development in boys) and puberty to occur too early in children. Girls with CAH may be born with ambiguity of their external genitalia, meaning their genitalia do not look like typical female genitalia.
CAH can be categorized as classic or nonclassic. The most common type of CAH can be life-threatening if it is left undiagnosed and untreated in newborns. Most patients with CAH must take daily medications to treat the symptoms. NICHD research aims to find new ways to diagnose and treat the disorder, as well as to help health care providers and scientists better understand how it develops.
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