Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Steroid Metabolism, Inborn Errors
Nutritional and Metabolic Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Steroid Metabolism, Inborn Errors
...
Female Urogenital Diseases
Urogenital Abnormalities
Disorders of Sex Development
Adrenogenital Syndrome
...
Male Urogenital Diseases
Urogenital Abnormalities
Disorders of Sex Development
Adrenogenital Syndrome
Término preferido
Adrenal Hyperplasia, Congenital
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Tipo
-
mesh:Descriptor
Definición
- 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.
Concepto genérico
Etiquetas alternativas
- Congenital Adrenal Hyperplasia
- Hyperplasia, Congenital Adrenal
En otras lenguas
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francés
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Hyperplasie surrénale congénitale
URI
http://data.loterre.fr/ark:/67375/JVR-K9191K7D-V
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