The goal of treatment is to return hormone levels to normal. This is done by taking a form of cortisol (dexamethasone, fludrocortisone, or hydrocortisone) every day. People may need additional doses of medicine during times of stress, such as severe illness or surgery.
The health care provider will determine the gender of a baby with ambiguous genitalia by checking the chromosomes (karyotyping). Girls with male-looking genitals will usually have surgery between ages 1 month – 3 months to correct the abnormal appearance.
Parents of children with congenital adrenal hyperplasia should be aware of the side effects of steroid therapy. Report signs of infection and stress to your health care provider because the child may need more medication. Steroid medications cannot be stopped suddenly, because it may lead to adrenal insufficiency.
- National Adrenal Diseases Foundation: www.medhelp.org/nadf/
- The MAGIC Foundation: www.magicfoundation.org
- The CARES Foundation: www.caresfoundation.org
People with this condition usually have good health. However, they may be shorter than normal, even with treatment.
Males have normal fertility. Females may have a smaller opening of the vagina and lower fertility.
People with this disorder must take medication their entire lives.
Untreated, adrenal crisis can lead to death within 1 – 6 weeks after birth.
- Abnormal female external genitals (internal organs are normal)
- Adrenal crisis, including hyponatremia and shock (especially in newborns)
- Early development of male sexual characteristics
- High blood pressure
- Low blood sugar
- Short height as an adult, despite early, rapid childhood growth
- Side effects of steroid medications used as treatment
- Tumors of the testes in adult men
Calling Your Health Care Provider
Call for an appointment with your health care provider if your child develops symptoms of this disorder.
If you had a child with this disorder or you have a family history of this disease and you plan to have other children, talk to your health care provider before conceiving. Genetic counseling is important if you have a family history of congenital adrenal hyperplasia.
Review Date : 1/21/2010
Reviewed By : Chad Haldeman-Englert, MD, Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.