Purpose: The aim of this study was to investigate the feasibility of using frozen-thawed testicular sperm as well as the timing of testicular sperm extraction (TESE) in patients with non-mosaic Klinefelter syndrome.
Methods: Intracytoplasmic sperm injection (ICSI) was performed in six of 17 (35%) patients whose sperm was recovered by TESE. Multiple biopsies of both testes were performed on the day of oocyte retrieval in all but one of the six patients.
Results: Seven pregnancies and deliveries were achieved in five couples, and one couple was unsuccessful. Five pregnancies were achieved using fresh motile sperm, and two were achieved using frozen-thawed sperm. Sperm cryopreservation was not possible in one of the five couples because of the small number of recovered sperm, and possible in four other couples for subsequent ICSI. One woman whose husband had TESE performed prior to ovarian stimulation did not become pregnant. This may be due to the attainment of only a few immotile sperm following the frozen-thawed procedure.
Conclusion: The outcome of ICSI using fresh or frozen-thawed testicular sperm in patients with non-mosaic Klinefelter syndrome was identical; however, TESE should be performed on the day of oocyte retrieval until such time as a procedure with a higher sperm yield from TESE is available. Moreover, an improved recovery procedure after cryopreservation-thawing of a single spermatozoon must be developed.
This is a preview of subscription content, log in to check access.
Okada H, Fujioka H, Tatsumi N, Kanzaki M, Okuda Y, Fujisawa M, Hazama M, Matsumoto O, Gohji K, Arakawa S, Kamidono S. Klinefelter syndrome in the male infertility clinic. Hum Reprod 1999;14:946–52.PubMedCrossRefGoogle Scholar
Poulakis V, Witzsch U, Diehl W, de Vries R, Becht E, Trotnow S. Birth of two infants with normal karyotype after intracytoplasmic injection of sperm obtained by testicular extraction from two men with non-mosaic Klinefelter’s syndrome. Fertil Steril 2001;76:1060–2.PubMedCrossRefGoogle Scholar
Kyono K, Fukunaga N, Haigo K, Chiba S, Araki Y. Pregnancy achieved following ICSI from a man with Klinefelter’s syndrome and spinal cord injury. Hum Reprod 2001;16:2347–9.PubMedGoogle Scholar
Ron-EI R, Strassburger D, Gelman-Kohan S, Friedler S, Raziel A, Appleman Z. A 47, XXY fetus conceived after ICSI of spermatozoa from a patient with non-mosaic Klinefelter’s syndrome. Hum Reprod 2000a;15:1804–6.CrossRefGoogle Scholar
Palermo GP, Schlegel PN, Sills ES, Veeck L, Zaninovic N, Menendez S, Rosenwaks Z. Births after intracytoplasmic injection of sperm obtained by testicular extraction from men with non-mosaic Klinefelter’s syndrome. N Engl J Med 1998;338:588–9.PubMedCrossRefGoogle Scholar
Nodar F, De Vincentiis S, Olmed SB, Papier S, Urrutia F, Acosta AA. Birth of twin males with normal karyotype after intracytoplasmic sperm injection with use of testicular spermatozoa from a non-mosaic patient with Klinefelter’s syndrome. Fertil Steril 1999;71:1149–52.PubMedCrossRefGoogle Scholar
Levron J, Aviram-Goldring A, Madger L, Raviv, G, Barkai G, Dor J. Sperm chromosome analysis and outcome of IVF in patients with non-mosaic Klinefelter’s syndrome. Fertil Steril 2000;74:925–9.PubMedCrossRefGoogle Scholar
Friedler S, Raziel A, Strassburger D, Schachter M, Bern O, Ron-EI R. Outcome of ICSI using fresh and cryopreserved-thawed testicular spermatozoa in patients with non-mosaic Klinefelter’s syndrome. Hum Reprod 2001;16:2616–20.PubMedCrossRefGoogle Scholar
Ron-EI R, Razziel A, Strassburger D, Schachter M, Bern O, Friedler S. Birth of healthy male twins after intracytoplasmic sperm injection of frozen-thawed testicular spermatozoa from a patient with non-mosaic Klinefelter’s syndrome. Fertil Steril 2000b;74:832–3.CrossRefGoogle Scholar
Okada H, Goda K, Muto S, Maruyama O, Koshida M, Horie S. Four pregnancies in non-mosaic Klinefelter’s syndrome using cryopreserved-thawed testicular spermatozoa. Fertil Steril 2005;84:13–6.Google Scholar
Rosenlund B, Hreinsson JG, Hovatta O. Birth of a healthy male after frozen thawed blastocyst transfer following intracytoplasmic injection of frozen thawed testicular spermatozoa from a man with nonmosaic Klinefelter’s syndrome. J Assist Reprod Genet 2002;19:149–51.PubMedCrossRefGoogle Scholar
Veeck LL. Preembryo grading. Atlas of the Human Oocyte and Early Conceptus. Vol. II. Baltimore: Williams & Wilkins; 1991. pp. 121–49.Google Scholar
Gardner DK, Schoolcraft WB. In vitro culture of human blastocysts. In: Jansen R, Mortimer D, editors. Towards reproductive certainty: Fertility & genetics beyond. Sydney: Parthenon Publishing; 1999. pp. 378–88.Google Scholar
Kyono K, Nakajo Y, Kumagai S, Sasaki S. Efficacy of low dose human chorionic gonadotropin (hCG) in a GnRH antagonist protocol. J Assist Reprod Genet 2006;23:223–8.CrossRefGoogle Scholar
Fukunaga N, Haigo K, Kyono K, Araki Y. Efficiency of using frozen-thawed testicular sperm for multiple intracytoplasmic sperm injections. J Assist Reprod Genet 2001;18:634–7.PubMedCrossRefGoogle Scholar
Cohen J, Garris GJ, Congedo-Ferrara TA, Kieck KA, Schimmel TW, Scott RR. Cryopreservation of single human spermatozoa. Hum Reprod 1997;12:994–1001.PubMedCrossRefGoogle Scholar
Schuster TG, Keller LM, Dunn RL, Ohl DA, Smith GD. Ultra-rapid freezing of very low numbers of sperm using cryoloops. Hum Reprod 2003;18:788–95.PubMedCrossRefGoogle Scholar
Madgar I, Dor J, Weissenberg R, Radiv G, Menashe Y, Levron J. Prognostic value of a clinical and laboratory evaluationin patients with nonmosaic Klinefelter syndrome who are receiving assisted reproductive therapy. Fertil Steril 2002;77:1167–9.PubMedCrossRefGoogle Scholar
Westlander G, Ekerhovd E, Granberg S, Hanson L, Hanson C, Berrgh C. Testicular ultrasonography and extended chromosome analysis in men with nonmosaic Klinefelter syndrome: a prospective study of possible predictive factors for successful sperm recovery. Fertil Steril 2001;75:1102–5.PubMedCrossRefGoogle Scholar
Okada H, Maruyama O, Muto S, Yamamoto Y, Koshida M, Horie S. Age as a limiting factor for successful sperm retrieval in nonmosaic Klinefelter syndrome. Fertil Steril 2005;84(Suppl.):S206.CrossRefGoogle Scholar
Tournaye H, Verheyen G, Nagy P, Goossens A, Ubaldi F, Silber S, Van Steirteghem A, Devroey P. Are there any predictive factors for successful testicular sperm recovery in azoospermic patients? Hum Reprod 1997;12:80–6.PubMedCrossRefGoogle Scholar
Vernaeve V, Staessen C, Verheyen G, Van Steirteghem A, Devroey P, Tournaye H. Can biological or clinical parameters predict testicular sperm recovery in 47, XXY Klinefelter’s syndrome patients? Hum Reprod 2004;19:1135–9.PubMedCrossRefGoogle Scholar
Kyono K, Fuchinoue K, Yagi A, Nakajo Y, Yamashita A, Kumagai S. Successful pregnancy and delivery after transfer of a single blastocyst derived from a vitrified mature human oocyte. Fertil Steril 2005;84(1017e):5–6.Google Scholar
Denschlag D, Tempfer C, Kunze M, Wolff G, Keck C. Assisted reproductive techniques in patients with Klinefelter syndrome: a critical review. Fertil Steril 2004;82:775–9.PubMedCrossRefGoogle Scholar
Staessen C, Tournaye H, Van Assche E, Michiels A, Van Landuyt L, Devroey P, Liebaers I, Van Steirteghem A. PGD in 47, XXY Klinefelter’s syndrome patients. Hum Reprod Update 2003;9:319–30.PubMedCrossRefGoogle Scholar