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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Steroid Metabolism, Inborn Errors > Adrenal Hyperplasia, Congenital
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Steroid Metabolism, Inborn Errors > Adrenal Hyperplasia, Congenital
Endocrine System Diseases > Gonadal Disorders > Disorders of Sex Development > Adrenogenital Syndrome > Adrenal Hyperplasia, Congenital
... > Urogenital Diseases > Female Urogenital Diseases and Pregnancy Complications > Female Urogenital Diseases > Urogenital Abnormalities > Disorders of Sex Development > Adrenogenital Syndrome > Adrenal Hyperplasia, Congenital
... > Urogenital Diseases > Male Urogenital Diseases > Urogenital Abnormalities > Disorders of Sex Development > Adrenogenital Syndrome > Adrenal Hyperplasia, Congenital
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Urogenital Abnormalities > Disorders of Sex Development > Adrenogenital Syndrome > Adrenal Hyperplasia, Congenital
Endocrine System Diseases > Adrenal Gland Diseases > Adrenal Hyperplasia, Congenital

Terme préférentiel

Adrenal Hyperplasia, Congenital  

Type

  • mesh:Descriptor

Définition

  • 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.

Concept générique

Concepts associés

Synonyme(s)

  • Congenital Adrenal Hyperplasia
  • Hyperplasia, Congenital Adrenal

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-K9191K7D-V

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RDF/XML TURTLE JSON-LD Date de création 01/01/1999, dernière modification le 30/06/2021