Adrenogenital Syndrome

Adrenogenital Syndrome (AGS) is a common inherited form of adrenal insufficiency. AGS is a disease that affects the manufacture of the "stress" hormone, cortisol. Cortisol is released into the blood stream from the adrenal gland, a small organ near the kidney. This group of diseases is due to mutations (genetic defects) in the genes coding for several enzymes needed for the production of adrenal cortex hormones. This enzyme is necessary for efficient production of two vital adrenal steroid hormones: cortisol and aldosterone.

Deficient production of these substances causes disruption in the delicate balance of hormones. Sensing low levels of cortisol, the adrenal, directed by the master hypothalamus and pituitary glands, goes into high gear. Because cortisol production is impeded, the adrenal cortex instead manufactures androgens, or male steroid hormones, an undesired by-product. Females with Adrenogenital Syndrome are born with an enlarged clitoris and normal internal reproductive tract structures. Males have normal genitals at birth. Adrenogenital Syndrome causes abnormal growth for both sexes; patients will be tall as children and short as adults. Females develop male characteristics, a

Adrenogenital Syndrome is diagnosed by a careful examination of the genitals and blood and urine tests that measure the hormones produced by the adrenal gland. A number of states in the United States perform a hormonal test (a heel prick blood test) for AGS and other inherited diseases within a few days of birth. In questionable cases, genetic testing can provide a definitive diagnosis. For some forms of AGS, prenatal diagnosis is possible through chronic villus sampling in the first trimester and by measuring certain hormones in the amniotic fluid during the second trimester.

An experimental type of drug therapy-a three-drug combination, with an androgen blocking agent (flutamide), an aromatase inhibitor (testolactone), and low dose hydrocortisone-is currently being studied by physicians at the National Institutes of Health. Preliminary results are encouraging, but it will be many years before the safety and effectiveness of this therapy is fully known.

nd males experience premature sexual development.

Females with AGS who have masculine external genitalia require surgery to reconstruct the clitoris and/or vagina. This is usually performed between the ages of one and three.

Parents with a family history of AGS, including a child who has AGS, should seek genetic counseling. Genetic testing during pregnancy can provide information on the risk of having a child with AGS.

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