Adrenal Hyperplasia, Congenital (General)

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.

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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

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