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Congenital Adrenal Hyperplasia

National Organization for Rare Disorders, Inc.

Important
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.

Synonyms

  • CAH
  • adrenogenital syndrome

Disorder Subdivisions

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

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.

Resources

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
Internet: http://www.CLIMB.org.uk

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
Internet: http://www.magicfoundation.org

National Adrenal Diseases Foundation
505 Northern Bloulevard
Great Neck, NY 11021
USA
Tel: (516)487-4992
Fax: (516)829-5710
Email: nadfmail@nadf.us
Internet: http://www.nadf.us/

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

Ambiguous Genitalia Support Network
P.O. Box 313
Clements, CA 95227-0313
USA
Tel: (209)727-0313

Child Growth Foundation
21 Malvern Drive
Sutton Coldfield
London, B76 1PZ
United Kingdom
Tel: 442089950257
Email: info@childgrowthfoundation.org or jennychild@childgrowthfoundation.org
Internet: http://www.childgrowthfoundation.org

NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
MSC2425
Bethesda, MD 20892
Fax: (866)760-5947
Tel: (800)370-2943
TDD: (888)320-6942
Email: NICHDInformationResourceCenter@mail.nih.gov
Internet: http://www.nichd.nih.gov/

CARES Foundation, Inc.
2414 Morris Avenue, Suite 110
Union, NJ 07083
USA
Tel: (908)364-0272
Fax: (908)686-2019
Tel: (866)227-3737
Email: contact@caresfoundation.org
Internet: http://www.caresfoundation.org

Hormone Health Network
8401 Connecticut Avenue
Suite 900
Chevy Chase, MD 20815-5817
Fax: (310)941-0259
Tel: (800)467-6663
Email: hormone@endo-society.org
Internet: http://www.hormone.org/

Congenital Adrenal Hyperplasia Education and Support Network
19724 East Pine #149
Catossa, OK 74015
USA
Tel: (918)604-4039
Email: support@congenitaladrenalhyperplasia.org
Internet: http://www.congenitaladrenalhyperplasia.org

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
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

CAH (Congenital Adrenal Hyperplasia) Support Group
2 Windrush Close
Flitwick
Bedfordshire, MK45 1PX
United Kingdom
Tel: 08006523181
Tel: 08006523181
Email: webmaster@cah.org.uk
Internet: http://www.livingwithcah.com/

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

Congenital Adrenal Hyperplasia Support Group
PO Box 66
Waihi
Hauraki, 3641
New Zealand
Tel: 6433584507
Fax: 6433584506
Tel: 0800224698
Email: CAHNZ@snap.net.nz
Internet: http://www.cah.org.nz/

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
Internet: http://www.accordalliance.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  2/2/2012
Copyright  1986, 1987, 1990, 1995, 1997, 1999, 2002, 2007, 2009, 2012 National Organization for Rare Disorders, Inc.

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