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.
11-Beta 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.
Children Living with Inherited Metabolic Diseases (CLIMB) Climb Building 176 Nantwich Road Crewe, Intl CW2 6BG United Kingdom Tel: 0845 241 2174 Tel: 800 652 3181 Email: firstname.lastname@example.org 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: email@example.com 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: firstname.lastname@example.org 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 Email: email@example.com
Child Growth Foundation 2 Mayfield Avenue Chiswick London, W4 1PW United Kingdom Tel: +44 208 995 0257 Email: firstname.lastname@example.org or email@example.com 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 Ave. Suite 110 Union, NJ 07083 USA Tel: (973)912-3895 Fax: (973)912-8990 Tel: (866)227-3737 Email: firstname.lastname@example.org Internet: http://www.caresfoundation.org
Hormone Foundation 8401 Connecticut Avenue Suite 900 Chevy Chase, MD 20815-5817 Fax: (310)941-0259 Tel: (800)467-6663 Email: email@example.com Internet: http://www.hormone.org/
MUMS National Parent-to-Parent Network 150 Custer Court Green Bay, WI 54301-1243 USA Tel: (920)336-5333 Fax: (920)339-0995 Tel: (877)336-5333 Email: firstname.lastname@example.org Internet: http://www.netnet.net/mums/
Congenital Adrenal Hyperplasia Education and Support Network 19724 East Pine #149 Catossa, OK 74015 USA Tel: (918)604-4039 Email: email@example.com 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/
Climb Congenital Adrenal Hyperplasia Support Group 2 Windrush Close Flitwick Bedfordshire, MK45 1PX UK Tel: 01525 717536 Tel: 0800 652 3181 Email: firstname.lastname@example.org Internet: http://www.cah.org.uk
Madisons Foundation PO Box 241956 Los Angeles, CA 90024 Tel: (310)264-0826 Fax: (310)264-4766 Email: email@example.com Internet: http://www.madisonsfoundation.org
Congenital Adrenal Hyperplasia Support Group PO Box 66 Waihi Hauraki, 3641 New Zealand Tel: +64 3 3584 507 Fax: +64 3 3584 506 Tel: 0800 224 698 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: firstname.lastname@example.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 email@example.com
Last Updated: 2/2/2012 Copyright 1986, 1987, 1990, 1995, 1997, 1999, 2002, 2007, 2009, 2012 National Organization for Rare Disorders, Inc.
How this information was developed to help you make better health decisions.
Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.