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Pathology for Urologists

Testicular Feminization


  • Karyotype: 46XY
  • May have "complete" female phenotype (presents with primary amenorrhea; then found to have testes); or "incomplete" female phenotype (presents with partial fusion of labioscrotal folds, clitoromegaly, male skeletal development, and poor breast development).
  • Associated syndromes: Gilbert-Dreyfus, Reifenstein's syndrome, and Rosewater syndrome.
  • Gross: testes may be small or normal in size, and may be located in the abdomen, inguinal canal, or labioscrotal folds.
  • Histology:
    • Seminiferous tubules are small with Sertoli cells only (usually).
    • Leydig cells are abundant.
    • Many cases demonstrate golden-yellow nodules characterized histologically by small seminiferous tubules with Sertoli cells and hyalinized lamina propria lacking elastic fibers – so-called Sertoli-Leydig hamartomas.
    • Many have small cystic structures (ovaries) and bundles of smooth muscle (myometrium) near testes.

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