Klinefelter's syndrome in the male infertility clinic

Okada, Hiroshi; Fujioka, Hitoshi; Tatsumi, Noboru; Kanzaki, Makoto; Okuda, Yoshihiro; Fujisawa, Masato; Hazama, M.; Matsumoto, Osamu; Gohji, Kazuo; Arakawa, Soichi; Kamidono, Sadao

doi:10.1093/humrep/14.4.946

Cited by 76 publications

(34 citation statements)

References 24 publications

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“…Approximately one of 1,000 male newborns has the 47, XXY Klinefelter syndrome, which is one of the most common sex chromosome anomalies in azoospermic Japanese men; its prevalence is 7.4% [1]. Several reports have described successful pregnancy outcomes in these patients using fresh testicular sperm obtained on the day of oocyte retrieval [2][3][4][5][6][7].…”

Section: Introductionmentioning

confidence: 99%

Seven pregnancies and deliveries from non-mosaic Klinefelter syndrome patients using fresh and frozen testicular sperm

Kyono

Uto

Nakajo

et al. 2006

J Assist Reprod Genet

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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 Conclusion: The outcome of ICSI using fresh or frozenthawed 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.

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Section: Introductionmentioning

confidence: 99%

Seven pregnancies and deliveries from non-mosaic Klinefelter syndrome patients using fresh and frozen testicular sperm

Kyono

Uto

Nakajo

et al. 2006

J Assist Reprod Genet

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“…It is reported that men with KS also have higher rates of sex chromosomal aneuploidy ranging from 0.1 to 50% and autosomal aneuploidy (of chromosomes 13, 18 and 21) in their sperm compared with normal fertile men (Moosani et al 1995, Martini et al 1996, Guttenbach et al 1997a, Estop et al 1998, Foresta et al 1998, Kruse et al 1998, Aran et al 1999, Lim et al 1999, Okada et al 1999, Rives et al 2000, Hennebicq et al 2001, Levron et al 2001, Morel et al 2003, Simpson et al, 2003, an observation paralleled by studies in 41,XXY mice (Mroz et al 1999). It is also well established that spermatogenesis in male XXY mice generally arrests prior to the onset of meiosis (Lue et al 2001).…”

Section: Introductionmentioning

confidence: 92%

Recombination in men with Klinefelter syndrome

Gonsalves

Turek

Schlegel³

et al. 2005

Reproduction

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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.

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“…23 In a study of 148 Klinefelter's syndrome cases Okada H et al found only 12.4% subjects had gynaecomastia. 20 Tarnekar et al not reported gynaecomastia in cases of Klinefelter's syndrome. 12 This finding is similar to that of present study as gynaecomastia was absent in all the 3 cases of Klinefelter's syndrome.…”

Section: 11mentioning

confidence: 99%