A 29-year-old infertile man with mild eunuchoid body proportions and unilateral gynecomastia with a low sperm count had normal chromosomes in lymphocytes and skin fibroblasts. Serum testosterone, urinary ketosteroid, and follicle-stimulating hormone levels were normal, but serum prolactin, luteinizing hormone, and estrogen levels were above normal. Testicular biopsy showed hypocellularity, a pacuity of maturing sperm, and increased lipid content in early spermatogonia. Cytogenetic analysis of the testicular material showed probable 46,XY/47,XXY mosaicism in spermatogonial cells. None of the cells in diakinesis and metaphase I showed the extra-X as a univalent, and 50% of the cells in diakinesis were hypodiploid with intact XY bivalents. Further analysis of spermatogenesis revealed polymorphic dyads, triads, tetrads, and uncleaved meiotic products of first and second meiosis. Sex chromatin studies of testicular cells showed that 20% of the cells were X-chromatin positive. Scanning electron microscopic study of sperm revealed a wide range of polymorphisms, with some uncleaved meiotic products maturing into double-headed and double-tailed sperm or sperm with bulbous middle pieces or protrusions. A cytogenetic basis for the origin of these abnormalities is presented.
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