Adrenal Hyperplasia, Congenital
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.
Year introduced: 1980
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Subheadings:
Tree Number(s): C12.050.351.875.253.090.500, C12.200.706.316.090.500, C12.800.316.090.500, C16.131.939.316.129.500, C16.320.033, C16.320.565.925.249, C18.452.648.925.249, C19.053.440, C19.391.119.090.500
MeSH Unique ID: D000312
Entry Terms:
- Congenital Adrenal Hyperplasia
- Adrenal Hyperplasias, Congenital
- Congenital Adrenal Hyperplasias
- Hyperplasias, Congenital Adrenal
- Hyperplasia, Congenital Adrenal
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