Congenital Adrenal Hyperplasia

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.

Also Known As:

Hyperplasia, Congenital Adrenal; Adrenal Hyperplasia, Congenital; Adrenal Hyperplasias, Congenital; Congenital Adrenal Hyperplasias; Hyperplasias, Congenital Adrenal

Urogenital Diseases: 126
- Urogenital Abnormalities: 76
  - Disorders of Sex Development: 730
    - Adrenogenital Syndrome: 273
      - Congenital Adrenal Hyperplasia: 2841
- Female Urogenital Diseases and Pregnancy Complications
  - Female Urogenital Diseases
    - Urogenital Abnormalities: 76
      - Disorders of Sex Development: 730
        Adrenogenital Syndrome: 273
        Congenital Adrenal Hyperplasia: 2841
- Male Urogenital Diseases
  - Urogenital Abnormalities: 76
    - Disorders of Sex Development: 730
      - Adrenogenital Syndrome: 273
        Congenital Adrenal Hyperplasia: 2841
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Urogenital Abnormalities: 76
    - Disorders of Sex Development: 730
      - Adrenogenital Syndrome: 273
        Congenital Adrenal Hyperplasia: 2841
- Inborn Genetic Diseases: 11939
  - Congenital Adrenal Hyperplasia: 2841
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Steroid Metabolism: 2
      - Congenital Adrenal Hyperplasia: 2841
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Steroid Metabolism: 2
      - Congenital Adrenal Hyperplasia: 2841
Endocrine System Diseases: 968
- Gonadal Disorders: 30
  - Disorders of Sex Development: 730
    - Adrenogenital Syndrome: 273
      - Congenital Adrenal Hyperplasia: 2841
- Adrenal Gland Diseases: 24
  - Congenital Adrenal Hyperplasia: 2841

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Rachel Forfar Research Topics

Disease

Drug/Important Bio-Agent (IBA)