Congenital Adrenal Hyperplasia
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Congenital Adrenal Hyperplasia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- 21-hydroxylase deficiency
- 11-Beta hydroxylase deficiency
- 17a-hydroxylase deficiency
- congenital lipoid adrenal hyperplasia
- 3-Beta-hydroxysteroid dehydrogenase deficiency
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.
CLIMB (Children Living with Inherited Metabolic Diseases)
176 Nantwich Road
Crewe, CW2 6BG
6645 W. North Avenue
Oak Park, IL 60302
National Adrenal Diseases Foundation
505 Northern Bloulevard
Great Neck, NY 11021
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Ambiguous Genitalia Support Network
P.O. Box 313
Clements, CA 95227-0313
Child Growth Foundation
21 Malvern Drive
London, B76 1PZ
Email: firstname.lastname@example.org or email@example.com
NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
Bethesda, MD 20892
CARES Foundation, Inc.
2414 Morris Avenue, Suite 110
Union, NJ 07083
Hormone Health Network
8401 Connecticut Avenue
Chevy Chase, MD 20815-5817
Congenital Adrenal Hyperplasia Education and Support Network
19724 East Pine #149
Catossa, OK 74015
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
CAH (Congenital Adrenal Hyperplasia) Support Group
2 Windrush Close
Bedfordshire, MK45 1PX
PO Box 241956
Los Angeles, CA 90024
Congenital Adrenal Hyperplasia Support Group
PO Box 66
531 Route 22 East #244
Whitehouse Station, NJ 08889
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Last Updated: 2/2/2012
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