This Article Full Text Full Text (PDF) Submit a related Letter to the Editor Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Request Copyright Permission Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Foresta, C. Articles by Ferlin, A. Search for Related Content PubMed PubMed Citation Articles by Foresta, C. Articles by Ferlin, A.

Analysis of Meiosis in Intratesticular Germ Cells from Subjects Affected by Classic Klinefelter’s Syndrome

University of Padua, Department of Medical and Surgical Sciences, Clinica Medica 3, 35128 Padua, Italy

Address correspondence and requests for reprints to: Dr. Carlo Foresta, University of Padua, Department of Medical and Surgical Sciences, Clinica Medica 3, 35128 Padua, Italy. E-mail: forestac{at}protec.it

Azoospermic subjects affected by Klinefelter’s syndrome may occasionally show the presence of intratesticular residual foci of spermatogenesis, and the retrieval of mature spermatozoa from the testis may permit fertility and paternity by means of intracytoplasmic sperm injection.

Previous studies have demonstrated that these subjects show the presence of an increased incidence of hyperaploid spermatozoa. Here we analyzed, by fluorescence in situ hybridization using specific probes for chromosomes 8, X, and Y, the spermatogenic process and the meiotic progression of 47,XXY germ cells retrieved by fine needle aspiration of the testis in ten azoospermic patients affected by classic Klinefelter’s syndrome. All patients had lower testicular volume, higher gonadotropins, and lower testosterone plasma levels compared with control subjects. Cytological analysis of the testicular cells retrieved by fine needle aspiration showed the presence of Sertoli cells only in eight subjects, while germ cells were observed in two patients. In each patient Sertoli cells showed a 47,XXY karyotype, and the same chromosome pattern was observed in spermatogonia and primary spermatocytes of patients presenting a residual spermatogenesis. Secondary spermatocytes, spermatids, and mature spermatozoa showed different sex chromosome patterns, reflecting their origin from 47,XXY spermatogonia.

In conclusion, this study demonstrated that, in subjects affected by Klinefelter’s syndrome, residual germ cells may be present in the testis and that 47,XXY spermatogonia are able to undergo and complete the spermatogenic process leading to mature spermatozoa. These data further suggest the need to evaluate the sex chromosome status of sperm from patients affected by Klinefelter’s syndrome undergoing assisted reproductive techniques.

This article has been cited by other articles:

				R.B. Sciurano, C.V. Luna Hisano, M.I. Rahn, S. Brugo Olmedo, G. Rey Valzacchi, R. Coco, and A.J. Solari Focal spermatogenesis originates in euploid germ cells in classical Klinefelter patients Hum. Reprod., September 1, 2009; 24(9): 2353 - 2360. [Abstract] [Full Text] [PDF]

				M. Stabile, T. Angelino, F. Caiazzo, P. Olivieri, N. De Marchi, L. De Petrocellis, and P. Orlando Fertility in a i(Xq) Klinefelter patient: importance of XIST expression level determined by qRT-PCR in ruling out Klinefelter cryptic mosaicism as cause of oligozoospermia Mol. Hum. Reprod., November 1, 2008; 14(11): 635 - 640. [Abstract] [Full Text] [PDF]

				L. Aksglaede, A. M. Wikstrom, E. R.-D. Meyts, L. Dunkel, N. E. Skakkebaek, and A. Juul Natural history of seminiferous tubule degeneration in Klinefelter syndrome Hum. Reprod. Update, January 1, 2006; 12(1): 39 - 48. [Abstract] [Full Text] [PDF]

				J. D. Schiff, G. D. Palermo, L. L. Veeck, M. Goldstein, Z. Rosenwaks, and P. N. Schlegel Success of Testicular Sperm Injection and Intracytoplasmic Sperm Injection in Men with Klinefelter Syndrome J. Clin. Endocrinol. Metab., November 1, 2005; 90(11): 6263 - 6267. [Abstract] [Full Text] [PDF]

				N. Lahlou, I. Fennoy, J.-C. Carel, and M. Roger Inhibin B and Anti-Mullerian Hormone, But Not Testosterone Levels, Are Normal in Infants with Nonmosaic Klinefelter Syndrome J. Clin. Endocrinol. Metab., April 1, 2004; 89(4): 1864 - 1868. [Abstract] [Full Text] [PDF]

				D. Cruger, B. Toft, I. Agerholm, J. Fedder, F. Hald, and G. Bruun-Petersen Birth of a healthy girl after ICSI with ejaculated spermatozoa from a man with non-mosaic Klinefelter's syndrome: Case report Hum. Reprod., September 1, 2001; 16(9): 1909 - 1911. [Abstract] [Full Text] [PDF]

				J. Blanco, J. Egozcue, and F. Vidal Meiotic behaviour of the sex chromosomes in three patients with sex chromosome anomalies (47,XXY, mosaic 46,XY/47,XXY and 47,XYY) assessed by fluorescence in-situ hybridization Hum. Reprod., May 1, 2001; 16(5): 887 - 892. [Abstract] [Full Text] [PDF]

				R. Ron-El, D. Strassburger, S. Gelman-Kohan, S. Friedler, A. Raziel, and Z. Appelman A 47,XXY fetus conceived after ICSI of spermatozoa from a patient with non-mosaic Klinefelter's syndrome: Case report Hum. Reprod., August 1, 2000; 15(8): 1804 - 1806. [Abstract] [Full Text] [PDF]

				F. Morel, C. Roux, and J.-L. Bresson Segregation of sex chromosomes in spermatozoa of 46,XY/47,XXY men by multicolour fluorescence in-situ hybridization Mol. Hum. Reprod., June 1, 2000; 6(6): 566 - 570. [Abstract] [Full Text] [PDF]