Adrenal Hyperplasia, Congenital (General)

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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@climb.org.uk
Internet: http://www.CLIMB.org.uk

MAGIC Foundation for Children's Growth
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.medhelp.org/nadf

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
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
Email: agsn@inreach.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.nih.gov/hichd/

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: info@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 (Mothers United for Moral Support, Inc) 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: info@congenitaladrenalhyperplasia.org
Internet: http://www.congenitaladrenalhyperplasia.org

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

Congenital Adrenal Hyperplasia Trust (New Zealand)
PO Box 29-545
Fendalton Mall, Memorial Ave.
Christchurch, 8005
New Zealand
Tel: +64 3 3584 507
Fax: +64 3 3584 506
Email: CAHNZ@snap.net.nz

Accord Alliance
398 Columbus Avenue #294
Boston, MA 02116
USA
Tel: (617)488-9770
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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