Congenital adrenal hyperplasia

Definition

Adrenal virilism is the development or premature development of male secondary sexual characteristics caused by male sex hormones (androgens) excessively produced by the adrenal gland. This disorder can occur before birth and can lead to sexual abnormalities in newborns. It can also occur in girls and women later in life.

Description

In the normal human body, there are two adrenal glands. They are small structures that lie on top of the kidneys. The adrenal glands produce many hormones that regulate body functions. These hormones include androgens, or male hormones. Androgens are produced in normal girls and women. Sometimes, one or both of the adrenal glands becomes enlarged or overactive, producing more than the usual amount of androgens. The excess androgens create masculine characteristics.

Causes & symptoms

In infants and children, adrenal virilism is usually the result of adrenal gland enlargement that is present at birth. This is called congenital adrenal hyperplasia. The cause is usually a genetic problem that leads to severe enzyme deficiencies. In rare cases, adrenal virilism is caused by an adrenal gland tumor. The tumor can be benign (adrenal adenoma) or cancerous (adrenal carcinoma). Sometimes virilism is caused by a type of tumor on a woman's ovary (arrhenoblastoma).

Newborn girls with adrenal virilism have external sex organs that seem to be a mixture of male and female organs (called female pseudohermaphrodism). Newborn boys with the disorder have enlarged external sex organs, and these organs develop at an abnormally rapid pace.

Children with congenital adrenal hyperplasia begin growing abnormally fast, but they stop growing earlier than normal. Later in childhood, they are typically shorter than normal but have well-developed trunks.

Women with adrenal virilization may develop facial hair. Typically, their menstrual cycles are infrequent or absent. They may also develop a deeper voice, a more prominent Adam's apple, and other masculine signs.

Diagnosis

Endocrinologists, doctors who specialize in the diagnosis and treatment of glandular disorders, have the most expertise to deal with adrenal virilization. Some doctors who treat disorders of the internal organs (internists) and doctors who specialize in treating the reproductive system of women (gynecologists) may also be able to help patients with this disorder.

Diagnosis involves performing many laboratory tests on blood samples from the patient. These tests measure the concentration of different hormones. Different abnormalities of the adrenal gland produce a different pattern of hormonal abnormalities. These tests can also help determine if the problem is adrenal or ovarian. If a tumor is suspected, special x rays may be done to visualize the tumor in the body. Final diagnosis may depend on obtaining a tissue sample from the tumor (biopsy), and examining it under a microscope in order to verify its characteristics.

Treatment

Adrenal virilism caused by adrenal hyperplasia is treated with daily doses of a glucocorticoid. Usually prednisone is the drug of choice, but in infants hydrocortisone is usually given. Laboratory tests are usually needed from time to time to adjust the dosage. Girls with pseudohermaphrodism may require surgery to make their external sex organs appear more normal. If a tumor is causing the disorder, the treatment will depend on the type and location of the tumor. Information about the tumor cell type and the spread of the tumor is used to decide the best kind of treatment for a particular patient. If the tumor is cancerous, the patient will require special treatment depending on how far the cancer has advanced. Treatment can be a combination of surgery, medications used to kill cancer cells (chemotherapy), and x rays or other high energy rays used to kill cancer cells (radiation therapy). Sometimes the doctor must remove the adrenal gland and the surrounding tissues. If the tumor is benign, then surgically removing the tumor may be the best option.

Prognosis

Ongoing glucocorticoid treatment usually controls adrenal virilism in cases of adrenal hyperplasia, but there is no cure. If a cancerous tumor has caused the disorder, patients have a better prognosis if they have an early stage of cancer that is diagnosed quickly and has not spread.

Key Terms

Glucocorticoid

A hormone produced by the adrenal gland; this hormone leads to an increase in blood sugar and creation of sugar molecules by the liver.

Hydrocortisone

A hormone in the group of glucocorticoid hormones.

Prednisone

A drug that functions as a glucocorticoid hormone.

Further Reading

For Your Information

Books

• Little, M., and Garrell, D. C. Encyclopedia of Health; The Endocrine System: The Healthy Body. Chelsea House, 1990.
• Williams, G. H., and R. G. Dluh. "Diseases of the Adrenal Cortex." In Harrison's Principles of Internal Medicine, 13th Edition, edited by K. J. Isselbacher, et al. New York: McGraw-Hill, 1994.

  Periodicals

• Willensy, D. "The Endocrine System." American Health (April 1996): 92-93.

Gale Encyclopedia of Medicine. Gale Research, 1999.