Diseases & Conditions


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