Adrenal Hyperplasia, Congenital (General) / Disease

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Adrenal Hyperplasia, Congenital (General)

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
Phone #: 617-488-9770
800 #: N/A
e-mail: [email protected]
Home page: http://www.accordalliance.org
Ambiguous Genitalia Support Network
P.O. Box 313
Clements CA 95227-0313
Phone #: N/A
800 #: --
e-mail: [email protected]
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: [email protected]
Home page: http://www.cah.org.uk
CARES Foundation, Inc. (Congenital Adrenal Hyperplasia, Research, Education and Support)
2414 Morris Ave.
Union NJ 07083
Phone #: 973-912-3895
800 #: 866-227-3737
e-mail: [email protected]caresfoundation.org
Home page: http://www.caresfoundation.org
CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
Crewe Intl CW2 6BG
Phone #: +44- 87-0 7700 325
800 #: --
e-mail: [email protected]
Home page: http://www.CLIMB.org.uk
Congenital Adrenal Hyperplasia Trust (New Zealand)
PO Box 29-545
Christchurch None 8005
Phone #: +64- 3 -3584 507
800 #: N/A
e-mail: [email protected]
Home page: N/A
CongenitalAdrenalHyperplasia.org
19724 East Pine #149
Catossa OK 74015
Phone #: 918-604-4039
800 #: N/A
e-mail: [email protected]
Home page: http://www.congenitaladrenalhyperplasia.org
Hormone Foundation
8401 Connecticut Ave
Chevy Chase MD 20815
Phone #: --
800 #: 800-467-6663
e-mail: [email protected]
Home page: http://www.hormone.org
MAGIC Foundation for Children's Growth
6645 W. North Avenue
Oak Park IL 60302
Phone #: 708-383-0808
800 #: 800-362-4423
e-mail: [email protected]
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: [email protected]
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: [email protected]
Home page: http://www.madisonsfoundation.org
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-428-7100
800 #: 888-663-4637
e-mail: [email protected]
Home page: http://www.marchofdimes.com
NIH/National Institute of Child Health and Human Development
31 Center Dr
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: [email protected]
Home page: http://www.medhelp.org/nadf

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