American Urological Association - 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.
- 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.