by Erich Rosenberger M.D.

Created on: June 17, 2009

Congenital adrenal hyperplasia is a group of genetic conditions which all lead to the dysfunction of enzymes which function in the adrenal glands. These enzymes are responsible for controlling cortisol-cholesterol pathways. The end result of these defects is the improper production of a wide range of hormones which are needed for the proper development of sex organs.

An overwhelming majority of cases of congenital adrenal hyperplasia (often abbreviated CAH), is caused by a deficiency in a hormone called 21-hydroxylase. Defects in the ability to produce proper amounts of this enzyme can have a variety of effects in an effected child. In it's most mild form, the disorder can cause infertility. In severe cases, it can lead to chronic dehydration, malformation of the genitals, and even death.

The hormonal pathways which are effected in children with congenital adrenal hyperplasia are very complex. This article is not intended to be a comprehensive analysis of all possible causes, symptoms, treatment, or issues that are related to the disease. It is merely an outline.

The symptoms of congenital adrenal hyperplasia can vary tremendously depending on which particular part of the hormonal pathways that are effected. Some of the more common problems associated with congenital adrenal hyperplasia are listed here:

- Chronic vomiting and loss of body salt (called "salt wasting").

- Fast growth while still a child, along with early growth of pubic hair and other secondary sexual characteristics.

- infertility (especially in women, usually do to lack of proper ovulation)

- chronic hypertension (otherwise very rare in children)

- ambiguous genitalia, commonly in women. In severe cases, it can be hard to determine the sex of a child without detailed evaluations.

- excessive growth of facial hair

The mechanism by which these problems are caused is quite complex. I can provide a partial outline here. Cortisol is a hormone needed by the body for a wide range of purposes. Children with CAH cannot produce enough cortisol. This leads to overproduction of other hormones (again, the reasons for this are quite detailed), notably one called ACTH. Too much ACTH can lead to overstimulation of the sex-steroid producing part of the adrenal gland.

The adrenal gland essentially goes in to "high gear", over-producing many sex hormones. Because this happens way before puberty, when the effected child's body is not prepared, development does not proceed properly.

CAH is a genetic disorder. There are actually several specific genetic defects which can cause this condition. Many of the genes responsible for these conditions have been found by doctors and scientists.

If you have questions about CAH, it is best to talk to your doctor. This is an extremely complicated series of diseases - dealing with them can be difficult and requires the attention of professionals.

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