Aromatase deficiency

A rare autosomal recessive disorder in which individuals cannot synthesize endogenous ESTROGENS. In utero, this results in VIRILIZATION of both the fetus and mother, since the PLACENTA converts the precursor, DEHYDROEPIANDROSTERONE SULFATE, to TESTOSTERONE. Affected mothers exhibit HISUTISM and ACNE, which resolve following delivery. Affected female infants exhibit PSEUDOHERMAPHRODITISM at birth followed by cystic ovaries, delays in sexual development, and hirsutism at adolescence. Males may be asymptomatic at birth but can later exhibit tall stature, bone growth abnormalities and OBESITY, infertility and gynecomastia. Mutations in the CYP19A1 gene have been identified. OMIM: 613546

Also Known As:

Pseudohermaphroditism, female, due to placental aromatase deficiency

Enzymes and Coenzymes: 1
- Enzymes: 155591
  - Oxidoreductases: 13899
    - Oxygenases: 336
      - Mixed Function Oxygenases: 2207
        Cytochrome P-450 Enzyme System: 5452
        Cytochrome P450 Family 19: 20
        Aromatase: 2880
        Aromatase deficiency: 73
        Steroid Hydroxylases: 11
        Aromatase: 2880
        Aromatase deficiency: 73
- Cytochromes: 2210
  - Cytochrome P-450 Enzyme System: 5452
    - Cytochrome P450 Family 19: 20
      - Aromatase: 2880
        Aromatase deficiency: 73
    - Steroid Hydroxylases: 11
      - Aromatase: 2880
        Aromatase deficiency: 73
Amino Acids, Peptides, and Proteins: 1
- Proteins: 496323
  - Hemeproteins: 196
    - Cytochromes: 2210
      - Cytochrome P-450 Enzyme System: 5452
        Cytochrome P450 Family 19: 20
        Aromatase: 2880
        Aromatase deficiency: 73
        Steroid Hydroxylases: 11
        Aromatase: 2880
        Aromatase deficiency: 73
Skin and Connective Tissue Diseases
- Skin Diseases: 13402
  - Breast Diseases: 1573
    - Gynecomastia: 1485
      - Aromatase deficiency: 73
Urogenital Diseases: 129
- Genital Diseases: 114
  - Infertility: 20243
    - Male Infertility: 5295
      - Aromatase deficiency: 73
  - Male Genital Diseases: 2
    - Male Infertility: 5295
      - Aromatase deficiency: 73
- Urogenital Abnormalities: 77
  - Disorders of Sex Development: 740
    - XX Disorders of Sex Development 46: 77
      - Aromatase deficiency: 73
- Female Urogenital Diseases and Pregnancy Complications
  - Female Urogenital Diseases
    - Urogenital Abnormalities: 77
      - Disorders of Sex Development: 740
        XX Disorders of Sex Development 46: 77
        Aromatase deficiency: 73
- Male Urogenital Diseases
  - Urogenital Abnormalities: 77
    - Disorders of Sex Development: 740
      - XX Disorders of Sex Development 46: 77
        Aromatase deficiency: 73
  - Male Genital Diseases: 2
    - Male Infertility: 5295
      - Aromatase deficiency: 73
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Urogenital Abnormalities: 77
    - Disorders of Sex Development: 740
      - XX Disorders of Sex Development 46: 77
        Aromatase deficiency: 73
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Aromatase deficiency: 73
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Aromatase deficiency: 73
Endocrine System Diseases: 996
- Gonadal Disorders: 30
  - Disorders of Sex Development: 740
    - XX Disorders of Sex Development 46: 77
      - Aromatase deficiency: 73

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