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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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Newborn Exams May Soon Include DNA Screening - Statistical Data Included - Brief Article
From Family Pratice News, 6/1/00 by Timothy F. Kirn

PALM SPRINGS, CALIF. -- Routine DNA-based screening of newborns is not far off, and it will probably be used initially to detect three conditions: cystic fibrosis, congenital adrenal hyperplasia, and deafness.

That was the prediction of Dr. Edward R. McCabe, who serves as chairman of the Advisory Committee on Genetic Testing of the Secretary of Health and Human Services.

DNA technology is evolving rapidly, Dr. McCabe noted at a meeting that was sponsored by the American College of Medical Genetics.

In a short time, he predicted, physicians will have the ability to test for many conditions concurrently and to receive the results in less than an hour.

Some cystic fibrosis screening programs already use a DNA test as a second-tier test for confirmation when an immunoreactive trypsin assay is positive. Other cystic fibrosis screening programs also are moving in that direction, he said.

The advantage of using the two tests together is that it allows the lab to lower the threshold of the trypsinogen test without having to worry about false positives. Therefore, more patients can be picked up, said Dr. McCabe, who is physician-in-chief at Mattel Children's Hospital, University of California, Los Angeles.

DNA testing in congenital adrenal hyperplasia permits a better assessment of prognosis than measurement of 17-hydroxyprogesterone alone, he said.

There are very few mutations that cause congenital adrenal hyperplasia, and each one appears to be specifically associated with a mild or severe phenotype. DNA analysis therefore allows early identification of those patients who are at risk for an adrenal crisis that could be prevented with glucocorticoid replacement, Dr. McCabe explained.

In cases of congenital adrenal hyperplasia in which the child is born with ambiguous genitalia, the DNA test can make sure that the proper sex assignment is given to the child, he said.

DNA testing for mutations that are associated with connexin 26 deafness would help identify a high-risk group of infants among those whose initial hearing evaluation indicates a problem, Dr. McCabe said.

Connexin 26 deafness may account for 40% of all childhood deafness, and 60% of those with the connexin 26 phenotype will have severe to profound deafness, he noted.

Identification of these children will allow for early language intervention, which has been demonstrated to be crucial for the proper development of language faculties, Dr. McCabe said.

COPYRIGHT 2000 International Medical News Group
COPYRIGHT 2001 Gale Group

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