Congenital adrenal hyperplasia (CAH) is a rare genetic condition that affects how adrenal glands create hormones. To make hormones, your adrenal glands use chemicals called enzymes. These enzymes combine with cholesterol to become the hormones cortisol, aldosterone and androgen.
Cortisol helps our bodies cope with stress and maintain appropriate blood sugar. Aldosterone helps maintain the right amounts of sodium and potassium in the body, regulating heart rhythm. Androgen hormones contribute to the development of male features.
If a child does not have enough of an enzyme, or the enzyme does not work correctly, then he or she may have too little cortisol and aldosterone and too much androgen. Depending on the severity of the hormone imbalance, children can have a wide range of symptoms, some of which are life-threatening.
The most severe form of CAH is classical congenital adrenal hyperplasia. Symptoms of classical CAH include:
Another form of CAH is non-classical congenital adrenal hyperplasia. This form is not life-threatening. Some children may never have symptoms of the conditions, while others experience:
Symptoms can get worse over time if not treated. Many conditions have similar symptoms to non-classical congenital adrenal hyperplasia, so you should seek out the care of an experienced doctor for an accurate diagnosis.
Babies are tested for classical CAH during newborn screenings. These screenings are extremely important since children with classical CAH may be at risk for sudden death.
Children with non-classical CAH may be diagnosed later in childhood or during adolescence. Blood tests can reveal imbalanced hormone levels that may lead to a diagnosis. Pediatric endocrinologists and pediatric urologists diagnose and treat both forms of CAH.
Congenital adrenal hyperplasia requires care from multiple pediatric specialists. Doctors at Riley at IU Health are internationally known for their treatment of congenital adrenal hyperplasia.
The Riley CAH Comprehensive Care Program includes:
Learn more about the diagnosis and treatment of congenital adrenal hyperplasia at the resources below.
Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.
The CARES Foundation is the premier organization for support, education, advocacy and research of congenital adrenal hyperplasia. Their website offers information for both families and healthcare providers.
Doctors at Riley at IU Health have been leaders in CAH education and research for years. Current research projects include working with female patients and their families to determine the best approach to surgical care of genital anomalies in order for girls to experience the greatest psychological benefit and medical outcomes.