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Adrenogenital syndrome

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 infants, children, and adults. more...

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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.

Examples of problems caused by various forms of CAH:

  • ambiguous genitalia such that it is difficult to determine sex
  • vomiting leading to dehydration and death in early infancy
  • early pubic hair and rapid growth in childhood
  • precocious puberty or failure of puberty to occur
  • excessive facial hair, virilization, and/or menstrual irregularity in adolescence
  • infertility due to anovulation

Overview of the multiple types of CAH

Cortisol is an adrenal steroid hormone necessary for life; production begins in the second month of fetal life. Inefficient cortisol production results in rising levels of ACTH, which in turn induces overgrowth (hyperplasia) and overactivity of the steroid-producing cells of the adrenal cortex. The defects causing adrenal hyperplasia are congenital (i.e., present at birth).

Cortisol deficiency in CAH is usually partial, and not the most serious problem for an affected person. Synthesis of cortisol shares steps with synthesis of mineralocorticoids such as aldosterone, androgens such as testosterone, and estrogens such as estradiol. The resulting excessive or deficient production of these three classes of hormones produce the most important problems for people with CAH. Specific enzyme inefficiencies are associated with characteristic patterns of over- or underproduction of mineralocorticoids or sex steroids.

In all its forms, congenital adrenal hyperplasia due to 21-hydroxylase deficiency accounts for about 95% of diagnosed cases of CAH. Unless another specific enzyme is mentioned, "CAH" in nearly all contexts refers to 21-hydroxylase deficiency.

  • Severe 21-hydroxylase deficiency causes salt-wasting CAH, with life-threatening vomiting and dehydration occurring within the first weeks of life. Severe 21-hydroxylase deficiency is also the most common cause of ambiguous genitalia due to prenatal virilization of genetically female (XX) infants.
  • Moderate 21-hydroxylase deficiency is referred to as simple virilizing CAH; and typically is recognized by causing virilization of prepubertal children.
  • Still milder forms of 21-hydroxylase deficiency are referred to as non-classical CAH and can cause androgen effects and infertility in adolescent and adult women.

CAH due to deficiencies of other enzymes than 21-hydroxylase present many of the same management challenges as 21-hydroxylase deficiency, but some involve mineralocorticoid excess or sex steroid deficiency.

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Congenital Adrenal Hyperplasia: What It Is and How It's Treated
From American Family Physician, 3/1/99

What is congenital adrenal hyperplasia? A person with congenital adrenal hyperplasia (or CAH) doesn't make enough cortisol. Cortisol is a hormone that helps your body in times of physical stress. If you have CAH, your body's adrenal gland tries to make cortisol, but it can't make enough.

What are the symptoms of CAH?

There are two forms of CAH. Severe CAH is usually diagnosed at birth or in early childhood. Female children with severe CAH might be born with genitals that look like a boy. All children with severe CAH have masculine features (such as excess facial hair), grow quickly but stop growing before they should, have difficulty fighting off even small infections and may have trouble keeping enough salt in their bodies.

However, people with mild CAH are sometimes never diagnosed. They may be shorter than either of their parents, yet still be of normal height when compared with people their age. They may have acne and blood pressure problems. The illnesses they get, such as colds and sinus infections, don't go away as easily as everyone else's. Women with mild CAH may have genitals that don't look like other women's genitals. They may have square shoulders and narrow hips. Sometimes they have too much hair on their faces. Women with mild CAH often have irregular periods. They often have trouble getting pregnant.

How does my doctor know I have CAH?

Based on your symptoms and the results of your physical exam, your doctor may order blood tests to see if you have CAH.

What treatment is available for CAH?

Right now, there is no cure for CAH, but there is treatment. Some people with mild CAH may not need to take medicine all the time. They may only need to take cortisol when they are sick. Other people need to take cortisol every day.

If I have CAH, will my children get it?

If you and your partner have any form of CAH, your children might also have it. Remember, some people can have mild CAH and not know it, so you should tell your doctor as soon as you think you or your partner may be pregnant. A baby can be treated before it's born if the mother takes the medicine. If your baby has CAH, treatment should begin as soon as you know you are pregnant.

COPYRIGHT 1999 American Academy of Family Physicians
COPYRIGHT 2000 Gale Group

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