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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.


  • 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.


CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building

176 Nantwich Road

Crewe, CW2 6BG

United Kingdom

Tel: 4408452412173

Fax: 4408452412174



MAGIC Foundation

6645 W. North Avenue

Oak Park, IL 60302

Tel: (708)383-0808

Fax: (708)383-0899

Tel: (800)362-4423



National Adrenal Diseases Foundation

505 Northern Bloulevard

Great Neck, NY 11021


Tel: (516)487-4992

Fax: (516)829-5710



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



Ambiguous Genitalia Support Network

P.O. Box 313

Clements, CA 95227-0313


Tel: (209)727-0313

Child Growth Foundation

21 Malvern Drive

Sutton Coldfield

London, B76 1PZ

United Kingdom

Tel: 442089950257

Email: or


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

TDD: (888)320-6942



CARES Foundation, Inc.

2414 Morris Avenue, Suite 110

Union, NJ 07083


Tel: (908)364-0272

Fax: (908)686-2019

Tel: (866)227-3737



Hormone Health Network

8401 Connecticut Avenue

Suite 900

Chevy Chase, MD 20815-5817

Fax: (310)941-0259

Tel: (800)467-6663



Congenital Adrenal Hyperplasia Education and Support Network

19724 East Pine #149

Catossa, OK 74015


Tel: (918)604-4039



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


CAH (Congenital Adrenal Hyperplasia) Support Group

2 Windrush Close


Bedfordshire, MK45 1PX

United Kingdom

Tel: 08006523181

Tel: 08006523181



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766



Congenital Adrenal Hyperplasia Support Group

PO Box 66


Hauraki, 3641

New Zealand

Tel: 6433584507

Fax: 6433584506

Tel: 0800224698



Accord Alliance

531 Route 22 East #244

Whitehouse Station, NJ 08889


Tel: (908)349-0534

Fax: (801)349-0534



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 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 or email

Last Updated:  2/2/2012

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