Congenital Adrenal Hyperplasia

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:

• Genitals that appear male (in girls)
• Enlarged penis (in boys)
• Abnormal heart rhythm
• Dehydration
• Low blood pressure
• Vomiting
• Shock

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:

• Growing body hair at a young age (younger than 8 for girls and 9 for boys)
• Growing quickly at a young age
• Oily hair and skin
• Acne
• Body odor as a young child
• First period at an early age or irregular periods
• Thick facial hair in girls or early beard growth in boys 
• Infertility

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.

Diagnosis of Congenital Adrenal Hyperplasia

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.