Lipoid congenital adrenal hyperplasia

A severe hereditary autosomal recessive disorder of steroid hormone biosynthesis. It is caused by a defect in the conversion of CHOLESTEROL to PREGNENOLONE, the first step in adrenal and gonadal steroidogenesis. All affected individuals are phenotypic females with a severe salt-losing syndrome that is fatal if not treated in early infancy. Mutations in the STAR gene have been identified. OMIM: 201710

Also Known As:

Adrenal Hyperplasia I; Adrenal hyperplasia 1; Lipoid hyperplasia, congenital, of adrenal cortex with male pseudohermaphroditism

Urogenital Diseases: 129
- Urogenital Abnormalities: 77
  - Disorders of Sex Development: 740
    - 46,XY Disorder of Sex Development: 474
      - Lipoid congenital adrenal hyperplasia: 42
    - Adrenogenital Syndrome: 274
      - Congenital Adrenal Hyperplasia: 2895
        Lipoid congenital adrenal hyperplasia: 42
- Female Urogenital Diseases and Pregnancy Complications
  - Female Urogenital Diseases
    - Urogenital Abnormalities: 77
      - Disorders of Sex Development: 740
        46,XY Disorder of Sex Development: 474
        Lipoid congenital adrenal hyperplasia: 42
        Adrenogenital Syndrome: 274
        Congenital Adrenal Hyperplasia: 2895
        Lipoid congenital adrenal hyperplasia: 42
- Male Urogenital Diseases
  - Urogenital Abnormalities: 77
    - Disorders of Sex Development: 740
      - 46,XY Disorder of Sex Development: 474
        Lipoid congenital adrenal hyperplasia: 42
      - Adrenogenital Syndrome: 274
        Congenital Adrenal Hyperplasia: 2895
        Lipoid congenital adrenal hyperplasia: 42
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Urogenital Abnormalities: 77
    - Disorders of Sex Development: 740
      - 46,XY Disorder of Sex Development: 474
        Lipoid congenital adrenal hyperplasia: 42
      - Adrenogenital Syndrome: 274
        Congenital Adrenal Hyperplasia: 2895
        Lipoid congenital adrenal hyperplasia: 42
- Inborn Genetic Diseases: 12342
  - Congenital Adrenal Hyperplasia: 2895
    - Lipoid congenital adrenal hyperplasia: 42
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Steroid Metabolism: 2
      - Congenital Adrenal Hyperplasia: 2895
        Lipoid congenital adrenal hyperplasia: 42
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Steroid Metabolism: 2
      - Congenital Adrenal Hyperplasia: 2895
        Lipoid congenital adrenal hyperplasia: 42
Endocrine System Diseases: 996
- Gonadal Disorders: 30
  - Disorders of Sex Development: 740
    - 46,XY Disorder of Sex Development: 474
      - Lipoid congenital adrenal hyperplasia: 42
    - Adrenogenital Syndrome: 274
      - Congenital Adrenal Hyperplasia: 2895
        Lipoid congenital adrenal hyperplasia: 42
- Adrenal Gland Diseases: 25
  - Congenital Adrenal Hyperplasia: 2895
    - Lipoid congenital adrenal hyperplasia: 42

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Drug/Important Bio-Agent (IBA)