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 hormonecortisolcharge 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

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
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 Boulevard
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

NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
MSC2425
Bethesda, MD 20892
Tel: (301)496-5133
Fax: (301)496-7101
Internet: http://www.nichd.nih.gov/

CARES Foundation, Inc. (Congenital Adrenal Hyperplasia, Research, Education and Support)
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 Ave
Suite 900
Chevy Chase, MD 20815
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/

CongenitalAdrenalHyperplasia.org
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: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

CAH Support Group
2 Windrush Close
Flitwick, Bedfordshire, MK45 1PX
UK
Tel: +44 1525 717536
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
398 Columbus Avenue #294
Boston, MA 02116-6008
USA
Tel: (617)488-9770
Fax: (801)348-5350
Email: anthony.asciutto@accordalliance.org
Internet: http://www.accordalliance.org

For a Complete Report

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

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