Updated: 9/16/2020

Aromatase Deficiency

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Snapshot
  • A 13-year-old girl is evaluated by her pediatrician in the primary care clinic. She has severe acne that has been refractory to several treatment modalities. In addition, she reports having significant hair growth on her upper lip, chest, and armpits. Her voice has also become deeper in pitch in the past year. Her pediatrician has advised her to avoid playing contact sports, as her condition causes abnormal mineralization of her bones that may lead to fractures with minor trauma. She had genetic testing performed at birth, which revealed a mutation in the CYP19A1 gene.
Introduction
  • Overview
    • aromatase deficiency is a disorder of sexual development characterized by decreased levels of estrogen and increased levels of testosterone 
  • Epidemiology
    • incidence
      • < 1:1,000,000
      • fewer than 20 cases have been reported to date
  • Pathophysiology
    • mutation in the CYP19A1 gene, which codes for the enzyme aromatase
      • aromatase converts androgens to estrogens
      • ↓ aromatase activity leads to ↓ estrogen production and ↑ levels of androgens
  • Genetics
    • inheritance pattern
      • autosomal recessive
    • mutations
      • CYP19A1 gene
Presentation
  • Symptoms
    • both sexes
      • hyperglycemia due to insulin resistance
    • females
      • lack of menstruation
      • lack of breast growth
  • Physical exam
    • females
      • infants
        • ambiguous genitalia in female infants
      • adolescence
        • acne
        • hirsutism
      • during pregnancy
        • maternal virilization
          • excess fetal androgens may pass into the maternal bloodstream through the placenta
    • males
      • adolescence
        • abnormal sperm production
        • cryptorchidism
        • abnormal bone growth
Studies
  • Gene sequencing
    • will reveal a mutation in the CYP19A1 gene that codes for aromatase
Differential
  • 5α reductase deficiency
    • key distinguishing factor
      • 5α reductase deficiency is present only in genetic males (46,XY)
      • testosterone and estrogen levels are normal
Treatment
  • Medical
    • estrogen replacement
      • females
        • leads to menses, breast develompent, and proper bone growth
      • males
        • allows for proper bone growth
  • Surgical
    • surgical modification of ambiguous genitalia in females

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