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Adrenal Hyperplasia, Congenital (General)
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Copyright 1986, 1987, 1990, 1995, 1997, 1999, 2002, 2007, 2009
NORD is very grateful to Phyllis W. Speiser, MD, Chief, Division of Pediatric Endocrinology, Schneider Children's Hospital, Professor of Pediatrics, NYU School of Medicine, for assistance in the preparation of this report.
Synonyms of Adrenal Hyperplasia, Congenital (General)
- Adrenal Virilism
- Adrenogenital Syndrome
- CAH
- Congenital virilizing adrenal hyperplasia
- Corticosterone Methloxidase Deficiency Type I
- Hydroxylase Deficiency
Disorder Subdivisions
- 11-Beta Hydroxylase Deficiency
- 17 Alpha Hydroxylase Deficiency with 17, 20-Lyase Deficiency
- 17-Beta-HSD Deficiency
- 17-Beta Hydroxysteroid Deficiency
- 17-Ketosteroid Reductase Deficiency
- 21-Hydroxylation Deficiency
- 3-Beta-HSD 17-Hydroxylation Deficiency
- 3-Beta Hydroxysteroid Dehydrogenase Deficiency
- Cholesterol Desmolase Deficiency
- Corticosterone Methyloxidase Deficiency Type II
- Lipoid Hyperplasia-Male Pseudohermaphroditism
- Pregnenolone Deficiency
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).
Organizations related to Adrenal Hyperplasia, Congenital (General)
- Accord Alliance
398 Columbus Avenue #294
Boston MA 02116-6008
Phone #: 617-488-9770
800 #: N/A
e-mail: anthony.asciutto@accordalliance.org
Home page: http://www.accordalliance.org
- Ambiguous Genitalia Support Network
P.O. Box 313
Clements CA 95227-0313
Phone #: 209-727-0313
800 #: --
e-mail: esagsn@hotmail.com
Home page: N/A
- CAH Support Group
2 Windrush Close
Flitwick, Bedfordshire None MK45 1PX
Phone #: +44- 15-25 717536
800 #: N/A
e-mail: webmaster@cah.org.uk
Home page: http://www.cah.org.uk
- CARES Foundation, Inc. (Congenital Adrenal Hyperplasia, Research, Education and Support)
2414 Morris Ave.
Suite 110
Union NJ 07083
Phone #: 973-912-3895
800 #: 866-227-3737
e-mail: contact@caresfoundation.org
Home page: http://www.caresfoundation.org
- CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe Intl CW2 6BG
Phone #: +44- 87-0 7700 325
800 #: --
e-mail: info.svcs@climb.org.uk
Home page: http://www.CLIMB.org.uk
- Congenital Adrenal Hyperplasia Support Group
PO Box 66
Waihi
Hauraki None 3641
Phone #: +64- 3 -3584 507
800 #: 080-0 2-24 698
e-mail: CAHNZ@snap.net.nz
Home page: http://www.cah.org.nz/
- CongenitalAdrenalHyperplasia.org
19724 East Pine #149
Catossa OK 74015
Phone #: 918-604-4039
800 #: N/A
e-mail: support@congenitaladrenalhyperplasia.org
Home page: http://www.congenitaladrenalhyperplasia.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- Hormone Foundation
8401 Connecticut Ave
Suite 900
Chevy Chase MD 20815
Phone #: --
800 #: 800-467-6663
e-mail: hormone@endo-society.org
Home page: http://www.hormone.org
- MAGIC Foundation
6645 W. North Avenue
Oak Park IL 60302
Phone #: 708-383-0808
800 #: 800-362-4423
e-mail: mary@magicfoundation.org
Home page: http://www.magicfoundation.org
- MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
MSC2425
Bethesda MD 20892
Phone #: 301-496-5133
800 #: --
e-mail: N/A
Home page: http://www.nichd.nih.gov/
- National Adrenal Diseases Foundation
505 Northern Boulevard
Great Neck NY 11021
Phone #: 516-487-4992
800 #: --
e-mail: NADFmail@aol.com
Home page: http://www.nadf.us/
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