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Updated: Apr 15 2021

Androgen Insensitivity Syndrome / Testicular Feminization

  • Introduction
    • 46,XY
    • XR disorder with defect in androgen receptor
      • results in normal-appearing female with male genotype
    • Loss of negative feedback results in ↑ testosterone and LH
      • ↑ estrogen due to conversion of excess testosterone via aromatase
    • Y chromosome contains the sex determining region of Y (SRY)
      • encodes the gene for Müllerian Inhibitory Factor (MIF)
        • produced by Sertoli cells
        • results in degeneration of internal female sex organs
      • promotes testosterone expression
    • Lack of DHT effect (due to defective receptor) results in no external male sex organs
  • Presentation
    • Physical exam
      • rudimentary vagina
      • presents with no sexual hair
      • cryptorchid testes
        • often found in labia majora or inguinal canal
        • surgically removed to prevent malignancy
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