Presence of H‐Y antigen in patients with ullrich‐Turner syndrome and X‐chromosome rearrangements

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Abstract
Cells from eight of ten patients with gonadal dysgenesis and an isochromosome for the long arm of X, (i(Xq)), have been found to be H‐Y antigen‐positive, using an assay that employs rat antiserum and Raji cells. In addition, two patients with del(Xq) were also found to be H‐Y antigen‐positive, whereas four patients in whom only a 45,X line was detected were H‐Y antigen‐negative. These findings suggest that the X chromosome plays a role in the expression of H‐Y antigen in the absence of a Y chromosome. Since our patients with i(Xq) show no evidence of testicular differentiation, it is clear that there is not enough H‐Y antigen on these patients' cells to direct the development of a testis. These findings are consistent with the view that the normal functioning of genes on the X and the Y chromosomes is necessary for testicular organogenesis to occur.