The goal of treatment is to return hormone levels to normal. This is achieved by daily administration of forms of cortisol: dexamethasone, fludrocortisone, or hydrocortisone. Additional doses of medicine are required during times of stress such as severe illness or surgery.

The gender of a baby with ambiguous genitalia is determined by examination of the chromosomes (karyotyping). Reconstructive surgery for girls with masculine external genitalia is usually performed between the ages of 1 and 3 months to correct the abnormal appearance.

Parents of children with this disorder need instruction on the side effects of steroid therapy. They should report signs of infection and stress to their health care provider because increases in medication may be required. In addition, steroid medications cannot be stopped suddenly or adrenal insufficiency will result.

National Adrenal Diseases Foundation: (516) 487-4992

CARES (Congenital Adrenal hyperplasia Research, Education, and Support) Foundation: (866) 227-3737 (toll free) or www.caresfoundation.com

The outcome is usually associated with good health, but short stature may result even with treatment. Males have normal fertility. Females may have a smaller opening of the vagina and lower fertility.

Medication to treat this disorder must be continued for life.

• Adrenal crisis, including hyponatremia and shock (especially in newborns)
• Abnormal female external genitalia (internal organs are normal)
• Early development of male sexual characteristics
• Short adult stature despite early, rapid childhood growth
• Tumors of the testes in adult men
• High blood pressure
• Low blood sugar
• Side effects of corticosteroids used as treatment

Call for an appointment with your health care provider if your child develops symptoms of this disorder.

Also, if you had a child with this disorder or you have a family history of this disease and you plan to have other children, you should discuss this with your health care provider before conceiving a child. Genetic counseling is important if there is a history of congenital adrenal hyperplasia.