A CASE OF XY/XXY MOSAICISM AND BILATERAL ABSENCE OF THE VAS DEFERENS

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Abstract
A case of Klinefelter's syndrome with a mosaic of XY/XXY is presented. The patient's appearance was that of a normal man, with normal testis size, external genitalia and sexual hair distribution. The urinary levels of total gonadotrophins and 17-ketosteroids were within normal limits, but the spermogram showed aspermia in several analyses. The sex chromatin was negative in the blood smears but positive in the buccal smears. The chromosomal pattern of blood cultured cells was normal (46,XY) but those of the skin and testicular tissue showed a mosaic of XY/XXY type. The patient also presented bilateral agenesis of the vas deferens. The possible correlation between the patient's chromosomal aberration and congenital agenesis of the vas deferens is discussed.

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