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

Preferred term

Adrenal Hyperplasia, Congenital  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Adrenal Hyperplasias, Congenital
  • Congenital Adrenal Hyperplasia
  • Congenital Adrenal Hyperplasias
  • Hyperplasia, Congenital Adrenal
  • Hyperplasias, Congenital Adrenal

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.

History note

  • 80; was ADRENOGENITAL SYNDROME 1963-79

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URI

http://www.yso.fi/onto/mesh/D000312

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