This paper reports data from one case of XY gonadal dysgenesis and one case of XY mixed gonadal dysgenesis. Their H-Y antigen expression was determined on peripheral blood leukocytes and on gonad-derived fibroblasts. The former case was found to be H-Y negative while the latter was H-Y positive. The origin of these disorders is discussed in terms of mutations affecting the H-Y antigen generating and receptor systems.