Adrenal Hyperplasia, Congenital (General)

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Adrenal Hyperplasia, Congenital (General)

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Adrenal Hyperplasia, Congenital (General) 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

  • Corticosterone Methloxidase Deficiency Type I
  • Adrenal Virilism
  • Adrenogenital Syndrome
  • CAH
  • Hydroxylase Deficiency
  • Congenital virilizing adrenal hyperplasia

Disorder Subdivisions

  • 21-Hydroxylation Deficiency
  • 11-Beta Hydroxylase Deficiency
  • Pregnenolone Deficiency
  • 3-Beta Hydroxysteroid Dehydrogenase Deficiency
  • 3-Beta-HSD 17-Hydroxylation Deficiency
  • 17 Alpha Hydroxylase Deficiency with 17, 20-Lyase Deficiency
  • 17-Beta Hydroxysteroid Deficiency
  • 17-Ketosteroid Reductase Deficiency
  • 17-Beta-HSD Deficiency
  • Corticosterone Methyloxidase Deficiency Type II
  • Cholesterol Desmolase Deficiency
  • Lipoid Hyperplasia-Male Pseudohermaphroditism

General Discussion

Congenital Adrenal Hyperplasia (CAH) refers to a group of disorders that result from the impaired ability of the adrenal glands to produce vital steroid hormones (corticosteroids), two of which, glucocorticoids and mineralocorticoids, are normally active in the body. Low blood levels of the hormonecortisol charge the pituitary gland to produce abnormally high amounts of ACTH (adrenocorticotrophic hormone) which, in turn, stimulates the adrenal cortex to produce androgens or male steroid hormones. Fundamentally, CAH is due to genetic defects (mutations) in the genes controlling the manufacture of the enzymes necessary to produce the hormones of the adrenal cortex.

The various forms of CAH represent enzyme deficiencies at different stages of the production of the steroid hormones. These include 20, 22-Desmolase, 3-Beta Hydroxy-Steroid Dehydrogenase (HSD) Deficiency, 17-Hydroxylase/17, 20-Desmolase Deficiency, 21-Hydroxylase Deficiency, 11-Beta Hydroxylase Deficiency. Almost 95% of cases of CAH are the result of 21-hydroxylase deficiency. The overproduction of male steroid hormones (androgens) at the same time as cortisol and aldosterone are underproduced characterizes the difference between Addison?s disease and CAH.

One rare form of CAH can result from the overgrowth of fatty-like cells in the adrenal glands (congenital lipoid adrenal hyperplasia). This disorder can be causes by20-22 Desmolase Deficiency or by a deficiency of steroid acute regulatory protein (StAR).

Resources

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: info.svcs@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@aol.com
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: esagsn@hotmail.com

Child Growth Foundation
2 Mayfield Avenue
Chiswick
London, W4 1PW
United Kingdom
Tel: +44 208 995 0257
Email: info@childgrowthfoundation.org or jenny.child@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 Ave.
Suite 110
Union, NJ 07083
USA
Tel: (973)912-3895
Fax: (973)912-8990
Tel: (866)227-3737
Email: contact@caresfoundation.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: hormone@endo-society.org
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: mums@netnet.net
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: 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
Email: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
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: webmaster@cah.org.uk
Internet: http://www.cah.org.uk

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: +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: anthony.asciutto@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, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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:  5/4/2009
Copyright  1986, 1987, 1990, 1995, 1997, 1999, 2002, 2007, 2009 National Organization for Rare Disorders, Inc.

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