| Abstract: | Clinical, cytogenetic, pathologic and histocompatibility-Y (H-Y) antigen studies were performed on a phenotypic female with primary amenorrhea and streak gonads. Pathological examination of tissues removed at total hysterectomy and bilateral salpingo-gonadectomy showed gonadoblastoma and dysgerminoma of left streak. A single F-body (Y chromosome) was found in buccal smears. Analysis of blood cells and tumor fibroblasts showed a 46, XY chromosome constitution (Q-banding). The data were consistent with a diagnosis of 46, XY pure testicular dysgenesis. Positive results for H-Y antigen were found in this case. |
