Congenital Adrenal Hyperplasia
National Organization for Rare Disorders, Inc.
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General Discussion
Congenital adrenal hyperplasia (CAH) is a group of rare inherited 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: 1. Corticosteroids, which gauge the body's response to illness or injury; 2. Mineralocorticoids, which regulate salt and water levels; and 3. Androgens, which are male sex hormones. An enzyme deficiency will make the body unable to produce one or more of these hormones, which in turn will result in the overproduction of another type of hormone precursor 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, producing 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 sub-divided 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 genital development in infant girls.
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.
Supporting Organizations
Accord Alliance
- 531 Route 22 East #244
- Whitehouse Station, NJ 08889
- USA
- Tel: (908) 349-0534
- Fax: (801) 349-0534
- Email: janet.green@accordalliance.org
- Website: http://www.accordalliance.org
Ambiguous Genitalia Support Network
- P.O. Box 313
- Clements, CA 95227-0313
- USA
- Tel: (209)727-0313
CARES Foundation, Inc.
- 2414 Morris Avenue, Suite 110
- Union, NJ 07083
- Tel: (908)364-0272
- Fax: (908)686-2019
- Tel: (866)227-3737
- Email: contact@caresfoundation.org
- Website: http://www.caresfoundation.org
CLIMB (Children Living with Inherited Metabolic Diseases)
- Climb Building
- 176 Nantwich Road
- Crewe, CW2 6BG
- United Kingdom
- Tel: 4408452412173
- Fax: 4408452412174
- Email: enquiries@climb.org.uk
- Website: http://www.CLIMB.org.uk
CLIMB CAH Support Group
- C/O Climb Building
- 176 Nantwich Road
- Crew, Cheshire CW2 6BG
- United Kingdom
- Tel: 0870 7700 326
- Tel: 8006523181
- Email: webmaster@cah.org.uk
- Website: http://www.livingwithcah.com/
Child Growth Foundation
- Tel: 020 8995 0257
- Email: info@childgrowthfoundation.org
- Website: http://www.childgrowthfoundation.org
Congenital Adrenal Hyperplasia Education and Support Network
- 19724 East Pine #149
- Catossa, OK 74015
- USA
- Tel: (918)604-4039
- Email: support@congenitaladrenalhyperplasia.org
- Website: http://www.congenitaladrenalhyperplasia.org
Congenital Adrenal Hyperplasia Support Group
- PO Box 66
- Waihi
- Hauraki, 3641
- New Zealand
- Tel: 6433584507
- Fax: 6433584506
- Tel: 800224698
- Email: CAHNZ@snap.net.nz
- Website: http://www.cah.org.nz/
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
Hormone Health Network Endocrine Society
- 2055 L Street NW
- Suite 600
- Washington, DC 20036
- Tel: (202)971-3636
- Fax: (202)736-9705
- Tel: (888)363-6274
- Email: hormone@endocrine.org
- Website: http://www.hormone.org/
MAGIC Foundation
- 6645 W. North Avenue
- Oak Park, IL 60302
- Tel: (708)383-0808
- Fax: (708)383-0899
- Tel: (800)362-4423
- Email: mary@magicfoundation.org
- Website: http://www.magicfoundation.org
March of Dimes
- 1275 Mamaroneck Avenue
- White Plains, NY 10605
- Tel: (914)997-4488
- Fax: (914)997-4763
- Email: AskUs@marchofdimes.org or preguntas@nacersano.org
- Website: http://www.marchofdimes.org and nacersano.org
NIH/National Institute of Child Health and Human Development
- 31 Center Dr
- Building 31, Room 2A32
- Bethesda, MD 20892
- Fax: (866)760-5947
- Tel: (800)370-2943
- Email: NICHDInformationResourceCenter@mail.nih.gov
- Website: http://www.nichd.nih.gov/
National Adrenal Diseases Foundation
- 505 Northern Bloulevard
- Great Neck, NY 11021
- USA
- Tel: (516)487-4992
- Fax: (516)829-5710
- Email: nadfmail@nadf.us
- Website: http://www.nadf.us/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
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This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Last Updated: 4/29/2015
Copyright 2015 National Organization for Rare Disorders, Inc.
