Adrenogenital syndrome; 21-hydroxylase deficiency
Definition of Congenital adrenal hyperplasia
Congenital adrenal hyperplasia refers to a group of inherited disorders of the adrenal gland.
Causes, incidence, and risk factors
Congenital adrenal hyperplasia can affect both boys and girls. People with congenital adrenal hyperplasia lack an enzyme needed by the adrenal gland to make the hormones cortisol and aldosterone.
Girls will usually have normal female reproductive organs (ovaries, uterus, and fallopian tubes). They may also have the following changes:
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.
People with this condition usually have good health. However, they may be shorter than normal, even with treatment.
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. – 1/21/2010