XY gonadal dysgenesis and the H-Y antigen. Report on 12 cases.
H-Y antigen was determined in 12 patients affected by XY gonadal dysgenesis. Of these, three proved to be H-Y negative, and nine, including two sisters, were H-Y positive; two of the unrelated positive cases exhibited a reduced antigen titer. Therefore, this clinical condition must be genetically heterogeneous. It is assumed that in the negative cases and possibly in those with reduced antigen titer, the H-Y generating system is affected by mutation, while in the regular positive cases the target cells are unable to respond due to a defect of the gonad-specific H-Y antigen receptor.
D000293:Adolescent; D000328:Adult; D005260:Female; D005802:Genes, MHC Class II; D005808:Genes, Recessive; D006182:H-Y Antigen / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010641:Phenotype; D014424:Turner Syndrome / Q000235:genetics / Q000276:immunology*; D014960:X Chromosome
D006182:H-Y Antigen