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    Congenital Adrenal Hyperplasia

    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.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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