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Congenital Adrenal Hyperplasia

Abstract

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NORD is very grateful to Phyllis W. Speiser, MD, Chief, Division of Pediatric Endocrinology, Cohen Children's Medical Center of NY; Professor of Pediatrics, Hofstra North Shore LIJ School of Medicine, for assistance in the preparation of this report.

Synonyms of Congenital Adrenal Hyperplasia

  • adrenogenital syndrome
  • CAH

Disorder Subdivisions

  • 11-Beta hydroxylase deficiency
  • 17a-hydroxylase deficiency
  • 21-hydroxylase deficiency
  • 3-Beta-hydroxysteroid dehydrogenase deficiency
  • congenital lipoid adrenal hyperplasia

General Discussion

Congenital adrenal hyperplasia (CAH) is a group of rare autosomal recessive disorders characterized by a deficiency of one of the enzymes needed to make specific hormones. CAH effects the adrenal glands located at the top of each kidney. Normally, the adrenal glands are responsible for producing three different hormones: corticosteroids, which gage the body's response to illness or injury, mineralocorticoids, which regulate salt and water levels, and androgens, which are male sex hormones. An enzyme deficiency will make the body unable to produce one or more of these hormones, which will result in the overproduction of another in order to compensate for the loss.

The most common cause of CAH is the absence of the enzyme 21-hydroxylase. Different mutations in the gene responsible for 21-hydroxylase result in different levels of the enzyme. and produce a spectrum of effects. CAH due to 21-hydroxylase deficiency is responsible for 95% of all cases of CAH and is broken down further into two subcategories: classical CAH, which can be divided further into the salt-losing form or the simple-virilizing form, and non-classical CAH. Classical CAH is by far the more severe form and can result in adrenal crisis and death if not detected and treated. Non-classical CAH is milder, and may or may not present symptoms. Since the absence of 21-hydroxylase makes these individuals unable to make the hormone cortisol and, in the case of salt-losing CAH, aldosterone, the body produces more androgens which cause a variety of symptoms such as abnormal sexual development.

There are other much rarer forms of CAH as well, including 11-Beta hydroxylase deficiency, 17a-hydroxylase deficiency, 3-Beta-hydroxysteroid dehydrogenase deficiency, and congenital lipoid adrenal hyperplasia, which all present different symptoms.
Although CAH is not curable, as long as patients receive adequate care and treatment, they can go on to lead normal lives.

Congenital Adrenal Hyperplasia Resources

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