Sexual and somatic determinants of the human Y chromosome: studies in a 46,XYp- phenotypic female.
A case of a 46,XYp- phenotypic female provided an opportunity to evaluate both sexual and somatic determinants for the Y chromosome. The patient had multiple stigmata of Turner syndrome, but normal stature. Laparotomy revealed a normal uterus and tubes, with 1.5 cm undifferentiated gonads. Serological tests for H-Y antigen (ostensibly the product of Y-chromosomal testis-determining genes) indicated absence of the H-Y+ phenotype normally associated with the intact Y chromosome. We conclude that genes exist on the short arm of the human Y chromosome which both suppress some of the somatic stigmata of Turner syndrome and determine normal expression of H-Y antigen and testicular differentiation of the primitive gonad. Our data are consistent with the view that H-Y genes comprise a family of testis-determinants, and that loss of a critical moiety is inconsistent with normal development of the male gonad.
D001827:Body Height; D002648:Child; D002874:Chromosome Mapping; D005260:Female; D005796:Genes; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics*; D006182:H-Y Antigen / Q000235:genetics; D006801:Humans; D008297:Male; D010641:Phenotype; D012730:Sex Chromosomes; D012733:Sex Differentiation; D014998:Y Chromosome
D006182:H-Y Antigen