{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T20:23:23Z","timestamp":1775075003861,"version":"3.50.1"},"reference-count":46,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,4,4]],"date-time":"2017-04-04T00:00:00Z","timestamp":1491264000000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Reprod Medicine &amp; Biology"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aim<\/jats:title><jats:p>The main cause of Klinefelter's syndrome (<jats:styled-content style=\"fixed-case\">KS<\/jats:styled-content>) has been believed to be <jats:styled-content style=\"fixed-case\">XY<\/jats:styled-content> sperm. Accordingly, in the intracytoplasmic sperm injection treatment of patients with <jats:styled-content style=\"fixed-case\">KS<\/jats:styled-content>, hereditary <jats:styled-content style=\"fixed-case\">KS<\/jats:styled-content> has been a concern. Therefore, this study attempted to estimate the risk before and after the assisted reproductive technology.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>First, in order to validate the safety of the gametes of the patients with <jats:styled-content style=\"fixed-case\">KS<\/jats:styled-content>, a fluorescent in situ hybridization (<jats:styled-content style=\"fixed-case\">FISH<\/jats:styled-content>) analysis, following an original cell identification method using 1052 testicular gametes of 30 patients, was conducted. Second, in the resultant 45 babies, cytogenetic and physical\u2013cognitive screening data were analyzed. In addition, a first attempt was conducted to investigate the origin of the extra X chromosome in 11 patients with <jats:styled-content style=\"fixed-case\">KS<\/jats:styled-content> by using 12 X\u2010chromosome short tandem repeat (<jats:styled-content style=\"fixed-case\">STR<\/jats:styled-content>) analysis in order to estimate the paternal contribution to <jats:styled-content style=\"fixed-case\">KS<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>No sex chromosomally abnormal gamete was found in the <jats:styled-content style=\"fixed-case\">FISH<\/jats:styled-content> analysis and the babies were normal genetically, physically, and cognitively. In the <jats:styled-content style=\"fixed-case\">STR<\/jats:styled-content>, it was confirmed that most (7\/11) of the patients with <jats:styled-content style=\"fixed-case\">KS<\/jats:styled-content> resulted from the fertilization of the <jats:styled-content style=\"fixed-case\">XX<\/jats:styled-content> oocytes, suggesting that a baby with <jats:styled-content style=\"fixed-case\">KS<\/jats:styled-content> that had been reported previously might not have resulted from <jats:styled-content style=\"fixed-case\">XY<\/jats:styled-content> sperm.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>These results indicate that the risk of assisted reproductive technology for patients with <jats:styled-content style=\"fixed-case\">KS<\/jats:styled-content> is not as high as previously 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