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)

2414 Morris Ave.

Suite 110

Union, NJ 07083

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-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: 9203365333

Fax: 9203390995

Tel: 8773365333

Email: mums@netnet.net

Internet: http://www.netnet.net/mums/



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 08, 2007