- Concept UI
- M0000487
- Scope Note
- 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.
- Terms
-
Adrenal Hyperplasia, Congenital
Preferred Term
Term UI
T001013
Date01/01/1999
LexicalTag
NON
ThesaurusID
NLM (1966)
-
Congenital Adrenal Hyperplasia
Term UI
T001011
Date06/13/1979
LexicalTag
NON
ThesaurusID
UNK (19XX)
-
Hyperplasia, Congenital Adrenal
Term UI
T001012
Date06/13/1979
LexicalTag
NON
ThesaurusID
UNK (19XX)