What is congenital adrenal hyperplasia?
Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from defects in steps of the synthesis of cortisol from cholesterol by the adrenal glands. Most of these diseases involve excessive or defective production of sex steroids and can pervert or impair development of primary or secondary sex characteristics in affected
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infants, children, and adults. Only a small minority of people with CAH can be said to have an intersex condition, but this attracted American public attention in the late 1990s and many accounts of varying accuracy have appeared in the popular media.
The human body has two adrenal glands, one on top of each kidney. These glands form part of the endocrine system, which works in conjunction with the nervous system and the immune system to help the body cope with different events and stresses. Adrenaline is the most well known hormone secreted by the adrenal glands. Other important hormones include cortisol, aldosterone and the sex hormone androgen. All these hormones are synthesised from cholesterol, which is an oily substance manufactured by the body and found in animal, and some vegetable, products. Particular enzymes are needed to help convert cholesterol into the adrenal hormones. The underlying problem in CAH is that that not enough of these enzymes are produced. This is due to a genetic or inherited 'fault'. The symptoms of the disorder depend on the particular enzymes affected. There is no cure for CAH, but the disorder can be managed very well with medications.
Congenital adrenal hyperplasia (CAH) is a form of adrenal insufficiency in which the enzyme that produces two important adrenal steroid hormones, cortisol and aldosterone, is deficient. Because cortisol production is impeded, the adrenal gland instead overproduces androgens (male steroid hormones). Females with CAH are born with an enlarged clitoris and normal internal reproductive tract structures. Males have normal genitals at birth. CAH causes abnormal growth for both sexes; patients will be tall as children and short as adults. Females develop male characteristics, and males experience premature sexual development.
In its most severe form, called salt-wasting CAH, a life-threatening adrenal crisis can occur if the disorder is untreated. Adrenal crisis can cause dehydration, shock, and death within 14 days of birth. There is also a mild form of CAH that occurs later in childhood or young adult life in which patients have partial enzyme deficiency. CAH, a genetic disorder, is the most common adrenal gland disorder in infants and children, occurring in one in 10,000 total births worldwide. It affects both females and males. It is also called adrenogenital syndrome. |
