Aromatase deficiency Congenital

Aromatase deficiency
  • Facts:
    Rare enzyme deficiency that prevents the conversion of androgens to estrogens
  • History / PE:
    Delayed puberty
    Normal internal anatomy, ambiguous external anatomy
  • Diagnosis:
    Undetectable circulating estrogens
    Polycystic ovaries
    High FSH/LH
  • Associated With:
    Gestational maternal virilization (resolves after delivery)
  • Differential Diagnosis:
    Congenital adrenal hyperplasia
    Polycystic ovarian syndrome (PCOS)

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August 7th 2010