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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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AAP Report on Congenital Adrenal Hyperplasia - American Academy of Pediatrics
From American Family Physician, 8/15/01 by Monica Preboth

The Section on Endocrinology and the Committee on Genetics of the American Academy of Pediatrics (AAP) have developed a technical report on congenital adrenal hyperplasia (CAH). The report provides current information on prenatal diagnosis and screening, methods of diagnosis of affected patients and heterozygote carriers, and newer treatment approaches for patients with CAH. The AAP technical report appears in the December 2000 issue of Pediatrics.

According to the AAP, CAH consists of a family of disorders caused by reduced activity of enzymes required for cortisol biosynthesis in the adrenal cortex. The most common defect is 21-hydroxylase (21-OH) deficiency, which accounts for more than 90 percent of all cases of CAH. Clinical consequences of 21-OH deficiency result mainly from overproduction and accumulation of precursors proximal to the blocked enzyme step. These precursors are shunted into the androgen biosynthesis pathway, producing virilization in the female fetus or infant and rapid postnatal growth with accelerated skeletal maturation, precocious puberty and short adult stature in both males and females. These patients are likely to have a defect in their ability to synthesize aldosterone, which can lead to death from shock resulting from salt wasting during the newborn period.

The AAP technical report states that the objective of prenatal diagnosis and treatment of 21-OH deficiency is the prevention of prenatal virilization in affected female infants and the early recognition of the potential for salt wasting in the newborn infant. The major objectives of newborn screening for CAH attributable to 21-OH deficiency are to identify infants at risk for the development of life-threatening adrenal crisis and to prevent the incorrect male sex assignment of affected female infants with ambiguous genitalia.

According to the AAP, administration of glucocorticosteroids inhibits excessive production of androgens and prevents progressive virilization. Patients with disturbances of electrolyte regulation (salt losers) and elevated plasma renin activity require a mineralocorticoid and sodium supplementation in addition to the glucocorticoid. Patients with nonclassic 21-OH deficiency do not always require treatment.

COPYRIGHT 2001 American Academy of Family Physicians
COPYRIGHT 2001 Gale Group

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