Aromatase deficiency Congenital

• Facts:
  Rare enzyme deficiency that prevents the conversion of androgens to estrogens
• History / PE:
  Clitoromegaly
  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)
  Osteoporosis
• Differential Diagnosis:
  Congenital adrenal hyperplasia
  Polycystic ovarian syndrome (PCOS)