Absence of H-Y antigen in a case of sporadic pure gonadal dysgenesis.
H-Y activity, endocrine function and gonadal histology were studied in a phenotypic female presenting with features of sporadic 46,XY pure gonadal dysgenesis. H-Y activity was absent, hormonal data revealed a primary ovarian failure with a blunted response of FSH to LHRH; there was no testicular tissue nor microscopic evidence of gonadal tumor in the gonads. The current view on the role of H-Y antigen in the differentiation of the gonads and in the occurrence of gonocytoma is discussed.
D000328:Adult; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006059:Gonadal Dysgenesis / Q000276:immunology*; D006061:Gonadal Dysgenesis, 46,XY / Q000276:immunology* / Q000473:pathology; D006182:H-Y Antigen / Q000032:analysis*; D006801:Humans; D007986:Luteinizing Hormone / Q000097:blood; D010053:Ovary / Q000473:pathology; D010375:Pedigree
D006182:H-Y Antigen; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone