Congenital adrenal hyperplasia due to 21 hydroxylase deficiency

Congenital adrenal hyperplasia that results from a deficiency in one or another of the enzymes of CORTISOL biosynthesis. In most cases, 21-hydroxylation is impaired in the ZONA FASCICULATA of the ADRENAL CORTEX so that 17-HYDROXYPROGESTERONE (17-OHP) is not converted to 11-DEOXYCORTISOL. This causes excessive production of ANDROGENS and VIRILIZATION. Caused by germline mutations in the CYP21A2 gene. OMIM: 201910

Also Known As:

21 alpha hydroxylase deficiency; 21 hydroxylase deficiency; 21-Hydroxylase Deficiency; Adrenal hyperplasia III; Attenuated congenital adrenal hyperplasia; CYP21 deficiency; Congenital adrenal hyperplasia 1; LOCAH; Late-onset congenital adrenal hyperplasia; NCCAH; Non classic congenital adrenal hyperplasia

Urogenital Diseases: 126
- Urogenital Abnormalities: 76
  - Disorders of Sex Development: 730
    - Adrenogenital Syndrome: 273
      - Congenital Adrenal Hyperplasia: 2841
        Congenital adrenal hyperplasia due to 21 hydroxylase deficiency: 1120
- Female Urogenital Diseases and Pregnancy Complications
  - Female Urogenital Diseases
    - Urogenital Abnormalities: 76
      - Disorders of Sex Development: 730
        Adrenogenital Syndrome: 273
        Congenital Adrenal Hyperplasia: 2841
        Congenital adrenal hyperplasia due to 21 hydroxylase deficiency: 1120
- Male Urogenital Diseases
  - Urogenital Abnormalities: 76
    - Disorders of Sex Development: 730
      - Adrenogenital Syndrome: 273
        Congenital Adrenal Hyperplasia: 2841
        Congenital adrenal hyperplasia due to 21 hydroxylase deficiency: 1120
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
        Congenital adrenal hyperplasia due to 21 hydroxylase deficiency: 1120
- Inborn Genetic Diseases: 11939
  - Congenital Adrenal Hyperplasia: 2841
    - Congenital adrenal hyperplasia due to 21 hydroxylase deficiency: 1120
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Steroid Metabolism: 2
      - Congenital Adrenal Hyperplasia: 2841
        Congenital adrenal hyperplasia due to 21 hydroxylase deficiency: 1120
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Steroid Metabolism: 2
      - Congenital Adrenal Hyperplasia: 2841
        Congenital adrenal hyperplasia due to 21 hydroxylase deficiency: 1120
Endocrine System Diseases: 968
- Gonadal Disorders: 30
  - Disorders of Sex Development: 730
    - Adrenogenital Syndrome: 273
      - Congenital Adrenal Hyperplasia: 2841
        Congenital adrenal hyperplasia due to 21 hydroxylase deficiency: 1120
- Adrenal Gland Diseases: 24
  - Congenital Adrenal Hyperplasia: 2841
    - Congenital adrenal hyperplasia due to 21 hydroxylase deficiency: 1120

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