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.