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: 129
- Urogenital Abnormalities: 77
  - Disorders of Sex Development: 740
    - Adrenogenital Syndrome: 274
      - Congenital Adrenal Hyperplasia: 2895
- Female Urogenital Diseases and Pregnancy Complications
  - Female Urogenital Diseases
    - Urogenital Abnormalities: 77
      - Disorders of Sex Development: 740
        Adrenogenital Syndrome: 274
        Congenital Adrenal Hyperplasia: 2895
- Male Urogenital Diseases
  - Urogenital Abnormalities: 77
    - Disorders of Sex Development: 740
      - Adrenogenital Syndrome: 274
        Congenital Adrenal Hyperplasia: 2895
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Urogenital Abnormalities: 77
    - Disorders of Sex Development: 740
      - Adrenogenital Syndrome: 274
        Congenital Adrenal Hyperplasia: 2895
- Inborn Genetic Diseases: 12342
  - Congenital Adrenal Hyperplasia: 2895
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Steroid Metabolism: 2
      - Congenital Adrenal Hyperplasia: 2895
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Steroid Metabolism: 2
      - Congenital Adrenal Hyperplasia: 2895
Endocrine System Diseases: 996
- Gonadal Disorders: 30
  - Disorders of Sex Development: 740
    - Adrenogenital Syndrome: 274
      - Congenital Adrenal Hyperplasia: 2895
- Adrenal Gland Diseases: 25
  - Congenital Adrenal Hyperplasia: 2895

L A Dimeglio Selected Research

L A Dimeglio Research Topics

Disease

Drug/Important Bio-Agent (IBA)

Therapy/Procedure