Congenital Adrenal Hyperplasia

National Organization for Rare Disorders, Inc.

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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.


  • adrenogenital syndrome
  • CAH

Disorder Subdivisions

  • None

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 8889
Tel: (908)349-0534
Fax: (801)349-0534

Ambiguous Genitalia Support Network

P.O. Box 313
Clements, CA 95227-0313
Tel: (209)727-0313

CAH (Congenital Adrenal Hyperplasia) Support Group

2 Windrush Close
Bedfordshire, MK45 1PX
United Kingdom
Tel: 8006523181
Tel: 8006523181

CARES Foundation, Inc.

2414 Morris Avenue, Suite 110
Union, NJ 7083
Tel: (908)364-0272
Fax: (908)686-2019
Tel: (866)227-3737

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building
176 Nantwich Road
Crewe, CW2 6BG
United Kingdom
Tel: 4408452412173
Fax: 4408452412174

Congenital Adrenal Hyperplasia Education and Support Network

19724 East Pine #149
Catossa, OK 74015
Tel: (918)604-4039

Congenital Adrenal Hyperplasia Support Group

PO Box 66
Hauraki, 3641
New Zealand
Tel: 6433584507
Fax: 6433584506
Tel: 800224698

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

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

MAGIC Foundation

6645 W. North Avenue
Oak Park, IL 60302
Tel: (708)383-0808
Fax: (708)383-0899
Tel: (800)362-4423

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763

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

National Adrenal Diseases Foundation

505 Northern Bloulevard
Great Neck, NY 11021
Tel: (516)487-4992
Fax: (516)829-5710

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:  12/30/1969
Copyright  2015 National Organization for Rare Disorders, Inc.