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Aromatase deficiency

Disease definition

Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.

ORPHA:91

  • Synonym(s):
    • Congenital estrogen deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E25.8
  • OMIM: 613546
  • UMLS: C0853662  C0878680  C1960539
  • MeSH: C537436
  • GARD: 365
  • MedDRA: -

Additional information

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