XXY CELLS IN A PREDOMINANTLY XX HUMAN MALE: EVIDENCE FOR CELL SELECTION

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Abstract
An 18-year-old phenotypic male who had been reported to have XX and no Y chromosome was further investigated. He had small (2.4 cm) testes and azoospermia. His testicular biopsy was markedly abnormal with dysplastic spermatic tubules and interstitial fibrosis. Cytologic studies revealed drumsticks in neutrophils and sex chromatin bodies in skin and various testicular cells. Chromosomal studies disclosed a small proportion (3/270) of XXY cells in cultures of blood and testis and no XXY cells (0/39) in culture of skin. The predominant line of cells in all these tissues had 46 chromosomes with XX and no Y chromosome. Cells with a Y chromosome were thus scarce, although as a zygote the patient presumably possessed a Y. Reference is made to the idea that sometimes selection may by unknown mechanisms work against the survival of a particular clone of cells after that clone has irrevocably influenced the course of embryonic development. The XXY cells in our patient would thus be a clone which selection has caused to nearly vanish.

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