The presence of an extra chromosome in the cells of patients with 47,XXY Klinefelter's syndrome and hypogonadism appears to be related phenomena. Testicular histopathology and function were compared in six patients with a 47,XXY karyotype and six patients with a 46,XY/47,XXY karyotype determined upon testicular cells. In addition, the frequency of clinical, histological, and hormonal abnormalities in these two groups of patients was compared following an extensive literature review. A greater degree of damage to the seminiferous tubules and germinal epithelium was found in the 47,XXY patients than in the 46,XY/47,XXY group. These results indicate that the normal 46,XY cells modify the damaging effect to the testis of the 47,XXY cells. This evidence supports a cause-effect relationship between the extra X chromosome and spermatogenesis in Klinefelter's syndrome.
Gordon DL, Krmpotic E, Thomas W, Gandy HM, Paulsen CA. Pathologic Testicular Findings in Klinefelter's Syndrome: 47,XXY vs 46,XY/47,XXY. Arch Intern Med. 1972;130(5):726–729. doi:10.1001/archinte.1972.03650050054009
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