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Adrenal Hyperplasia, Congenital

More information in Books or onNLM PubMed
Definition: A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders.     
See Also 3-Oxo-5-alpha-Steroid 4-Dehydrogenase; Puberty, Precocious; Steroid 11-beta-Hydroxylase; Steroid 17-alpha-Hydroxylase; Steroid 21-Hydroxylase; Virilism
Other names Hyperplasias, Congenital Adrenal; Congenital Adrenal Hyperplasias; Adrenal Hyperplasias, Congenital; Hyperplasia, Congenital Adrenal; Congenital Adrenal Hyperplasia
 
SubstanceCAS Registry & nameCategoriesSource
Hypoadrenocorticism, familial  0   *Adrenal Hyperplasia, Congenital.
Adrenal hyperplasia, congenital, type 5  0   *Adrenal Hyperplasia, Congenital.
Adrenal hyperplasia 2  0   *Adrenal Hyperplasia, Congenital.
Late-onset congenital adrenal hyperplasia  0   *Adrenal Hyperplasia, Congenital.
Lipoid congenital adrenal hyperplasia  0   *Adrenal Hyperplasia, Congenital *46, XY Disorders of Sex Development.
X-linked adrenal hypoplasia congenita  0   *Adrenal Hyperplasia, Congenital *Genetic Diseases, X-Linked.
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency  0   *Adrenal Hyperplasia, Congenital.
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency  0   *Adrenal Hyperplasia, Congenital.
CYP21A2 protein, human  EC 1.14.99.10   *Steroid 21-Hydroxylase Adrenal Hyperplasia, Congenital.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012

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