, Volume 6, Issue 2, pp 144-148

A familial 46 XY gonadal dysgenesis and high incidence of embryonic gonadal tumors

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The Swyer’s syndrome, 46XY gonadal dysgenesis (46XYGD) or XY female, belongs to the category of sexual abnomality. The syndrome is characterized by a female phenotype with streak gonads, 46XY karyotype and complicated by frequent develop of gonadal tumors. A congregated familial 46XYGD was analyzed. We have examined the whole family from many aspects and have followed the affected members more than 10 years. In present case, all eight siblings phenotypically were girls; the two eldest members died between 1970– 1972 from embryonic gonadal tumors. Five of remaining 6 girls were affected by the syndrome of 46 XYGD and two have got the same kind of tumor- dysgerminoma. By cytogenetic and cytobiological studies and on the basis of accumulated data the mechanism of gonadal carcinogenesis was analyzed. The origin of dysgerminoma for 46XYGD syndrome was postulated.