NIH MeSH · D000312Diseases

Adrenal Hyperplasia, Congenital

Also known asCongenital Adrenal Hyperplasia · Adrenal Hyperplasias, Congenital · Congenital Adrenal Hyperplasias · Hyperplasias, Congenital Adrenal · Hyperplasia, Congenital Adrenal

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.

MeSH classification

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

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Related concepts

Adrenogenital Syndrome

Abnormal SEX DIFFERENTIATION or congenital DISORDERS OF SEX DEVELOPMENT caused by abnormal levels of steroid hormones expressed by the GONAD…

Source: NIH MeSH 2026 (D000312) — National Library of Medicine, public domain. View official MeSH record ↗