Adrenal Hyperplasia, Congenital (General)

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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 hormones cortisol, and aldosterone, 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 3-Beta Hydroxy-Steroid Dehydrogenase (HSD) Deficiency, 17-Hydroxylase Deficiency, 21-Hydroxylase Deficiency, 17-20 Desmolase Deficiency, 11-Beta Hydroxylase Deficiency, and 17-Alpha Hydroxylase. 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 hyperplasia). This is also known as male pseudohermaphroditism or 20-22 Desmolase Deficiency.
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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: 5164874992
Fax: 5168295710
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/

Intersex Society of North America
979 Golf Course Drive #282
#282
Rohnert Park, CA 94928
USA
Fax: 8013485350
Email: info@isna.org
Internet: http://www.isna.org

CARES Foundation, Inc. (Congenital Adrenal Hyperplasia, Research, Education and Support)
189 Main Street
Millburn, NJ 07041
USA
Tel: 9739123895
Fax: 9739128990
Tel: 8662273737
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-sociey.org
Internet: http://www.hormone.org

CongenitalAdrenalHyperplasia.org
19724 East Pine #149
Catossa, OK 74015
USA
Tel: 9186044039
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

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:   8/8/2007
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Last updated:	August 8, 2007