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.