Cases reported "Gonadal Dysgenesis, Mixed"

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1/3. h-y antigen expression in a case of mixed gonadal dysgenesis.

    h-y antigen expression was studied on leukocytes and gonad-derived fibroblasts from a patient affected by mixed gonadal dysgenesis. Blood leukocytes and fibroblasts derived from the testis were typed H-Y positive, but the fibroblasts derived from the streak gonad were H-Y negative. Although the patient's karyotype was a mosaic, 45,XO/46,X mar, as detected in-peripheral blood cells and testis-derived fibroblasts, all the fibroblasts derived from the streak gonad were 45,XO. These data suggests that the marker chromosome was in fact a Y-derived chromosome. Moreover, they showed that, at the gonadal level, a minority of H-Y positive 46,X mar cells were able to organize a testis. Nevertheless, a large number of XO cells probably did not receive the testicular forming influence of the h-y antigen and of the other masculinizing factors.
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2/3. seminoma in a 46,XX true hermaphrodite with positive h-y antigen. A case report.

    This case study represents the first report of a 46,XX phenotypic male true hermaphrodite with a pure seminoma. Serologic testing of tissue demonstrated the presence of the h-y antigen. This finding supports the theory that the H-Y gene is essential for primary sex determination and raises the possibility that it may also be the specific factor responsible for malignant degeneration of dysgenetic gonads.
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3/3. Cytological evidence for the location of male-determining and H-Y genes on the short arm of y chromosome.

    Chromosome analysis was performed in a case of mixed gonadal dysgenesis (MGD) with histological demonstration of both testicular structures and Mullerian derivatives. mosaicism 45,X0/46, X plus a centric fragment was observed. C-, Q- and R-banding techniques show that the fragment has a terminal centromere and that it is derived from the short arm of the y chromosome from the father. h-y antigen was also shown to be present in cultured cells. These data demonstrate that both male-determining and H-Y genes are located on the short arm of the Y.
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