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Androgen Insensitivity Syndrome / Testicular Feminization

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Topic updated on 10/29/16 10:26am

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
  • XY genotype produces Müllerian Inhibitory Factor (MIF)
    • results in degeneration of internal female sex organs
  • 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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