Congenital adrenal hyperplasia refers to a group of inherited disorders of the adrenal gland.
Adrenogenital syndrome; 21-hydroxylase deficiency
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.
Without these hormones, the body produces more androgen, a type of male sex hormone. This causes male characteristics to appear early (or inappropriately).
About 1 in 10,000 to 18,000 children are born with congenital adrenal hyperplasia.
Girls will usually have normal internal female reproductive organs (ovaries, uterus, and fallopian tubes). They may have the following external changes:
Boys won't have any obvious problems at birth. However, they may appear to enter puberty as early as 2-3 years of age. Changes may include:
Both boys and girls will be tall as children but significantly shorter than normal as adults.
Some forms of congenital adrenal hyperplasia are more severe and cause adrenal crisis in the newborn due to loss of salt. In this form of congenital adrenal hyperplasia, newborns develop severe symptoms shortly after birth, including:
Genetic tests can help diagnose, confirm, and manage the disease.
This disease may also affect the results of the following tests:
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Reviewer Info: A.D.A.M. Editorial Team: David Zieve, MD, MHA, Greg Juhn, MTPW, David R. Eltz. Previously reviewed by Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network (5/15/2008).; ADAM Health Illustrated Encyclopedia, 10/09/2008 |