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Recombination in men with Klinefelter syndrome

¹ Department of Physiology, Programs in Human Genetics, Cancer Genetics, and Developmental and Stem Cell Biology, University of California at San Francisco, 513 Parnassus Avenue, San Francisco, CA 94143-0556, USA, ² Program in Human Embryonic Stem Cell Biology, University of California at San Francisco, 513 Parnassus Avenue, San Francisco, CA 94143-0556, USA, ³ Center for Reproductive Sciences, University of California at San Francisco, 513 Parnassus Avenue, San Francisco, CA 94143-0556, USA, ⁴ Department of Obstetrics, Gynecology and Reproductive Sciences, University of California at San Francisco, 513 Parnassus Avenue, San Francisco, CA 94143-0556, USA, ⁵ Department of Urology, University of California at San Francisco, 513 Parnassus Avenue, San Francisco, CA 94143-0556, USA, ⁶ Department of Urology, Weill Medical College of Cornell University, 525 East 68th Street, New York, NY 10021, USA and ⁷ Center for Biomedical Research, The Population Council, New York, NY 10021, USA

Correspondence should be addressed to P J Turek; Email: pturek{at}urol.ucsf.edu

Klinefelter syndrome (KS: 47,XXY), occurs in one in 1000 male births. Men with KS are infertile and have higher rates of aneuploidies in sperm compared with normal fertile men. In the course of analyzing recombination in a population of infertile men, we observed that four men in our study presented with KS. We examined whether these men differed in recombination parameters among themselves and relative to normal men. Even though the number of men with KS analyzed was small, we observed remarkable variation in spermatogenesis. In spite of the fact that the men had the same genetic cause for infertility, two of four KS patients had few or no spermatogenic cells that progressed through meiosis to the pachytene stage, whereas the other two men produced abundant pachytene cells that had recombination frequencies comparable with those of fertile men, although one had a significant reduction in fidelity of synapsis. Moreover, regardless of histological appearance, examination of outcomes of assisted reproduction indicated that sperm were extracted from testis biopsies in all four cases, and when used in assisted reproductive practices chromosomally normal babies were born. These results reinforce that: (i) men with the same underlying genetic cause for infertility do not present with uniform pathology, (ii) the checkpoint machinery that might arrest spermatogenesis in the face of chromosomal abnormalities does not prevent pockets of complete spermatogenesis in men with KS, and (iii) aneuploidy, in some cases, is compatible with birth of a chromosomally normal child, suggesting that sperm produced from a background of aneuploidy can be normal in men with KS.