H-Y antigen in 46,XY pure testicular dysgenesis.
Clinical, cytogenetic, pathologic, and histocompatibility-Y (H-Y) antigen studies were performed on a phenotype female with primary amenorrhea and streak gonads. Pathological examination of tissues removed at total hysterectomy and bilateral salpinog-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.
D000328:Adult; D003241:Consanguinity; D003601:Cytotoxicity Tests, Immunologic; D003907:Dexamethasone; D004407:Dysgerminoma / Q000235:genetics*; D006182:H-Y Antigen / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014424:Turner Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology
D006182:H-Y Antigen; D003907:Dexamethasone