Purpose : To investigate a possible association between testicular cancer or undescended testis and Y microdeletions.
Methods : It was designed as a retrospective clinical study. A total of 225 men with testicular cancer or undescended testis were included to study. Fertile men (n = 200) were investigated as a control. Genomic DNA, which was extracted from blood samples were investigated with a fluorescent multiplex PCR protocol for screening for Y microdeletions
Results : A single STS missing was found in eight men; one from the control group (sY153), seven from the patients group. The positive cases showed a single STS missing of marker sY153 and sY139 in testicular cancer (6/185) and undescended testis (1/40) patients, respectively.
Conclusions : Since no contiguous, real Y microdeletions were found in the study population, it seems that Y microdeletions are not a likely common etiological cause of poor spermatogenesis in testicular cancer and undescended testis. However, it remains to be determined whether men having a single STS missing have a risk of developing testis cancer or having undescended testis.
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REFERENCES
Forman D, Moller H: Testicular cancer. Cancer Surv 1994;19/20:323–341
Moller H, Skakkebaek NE: Testicular cancer and cryptorchidism in relation to prenatal factors: Case–control studies in Denmark. Cancer Causes Control 1997;8:904–912
Moller H, Skakkebaek NE: Risk of testicular cancer in subfertile men: Case–control study. BMJ 1999;318:559–562
Leissner J, Filipas D, Wolf HK, Fisch M: The undescended testis: Considerations and impact on fertility. BJU Int 1999;83:885–891
Kent-First M, Muallem A, Shultz J, Pryor J, Roberts K, Nolten W, et al.: Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Y-chromosome microdeletion detection.Mol Reprod Dev 1999;53:27–41
Bor P, Hindkjaer J, Ingerslev HJ, Kolvraa S: Multiplex PCR for screening of microdeletions on the Y chromosome. J Assist Reprod Genet 2001;18:291–298
Bor P, Hindkjaer J, Kolvraa S, Ingerslev HJ: A new approach for screening for Y microdeletions: Capillary electrophoresis combined with fluorescent multiplex PCR. J Assist Reprod Genet 2003;20(1):46–51
Bianchi NO, Richard SM, Peltomaki P, Bianchi MS: Mosaic AZF deletions and susceptibility to testicular tumors. Mutat Res 2002;503:51–62
Frydelund L, Vogt P, Leffers H, Schadwinkel A, Daugaard G, Skakkebaek NE, et al.: No AZF deletion in 160 patients with testicular germ cell neoplasia. Mol Hum Rep 2003;9:517–521
Fagerli J, Schneck FX, Lee PA, Bellinger MF, Witchel SF: Absence of microdeletions in the Y chromosome in patients with a history of cryptorchidism and azoospermia or oligospermia. Fertil Steril 1999;71:697–700
Foresta C, Moro E, Garolla A, Onisto M, Ferlin A: Y chromosome microdeletions in cryptorchidism and idiopathic infertility. J Clin Endocrinol Metab 1999;84:3660–3665
Thornhill AR, Guenther AJ, Barbarotto GM, Session DR, Damario MA, Dumesic DA, et al.: False-positive Y-microdeletion result for a fertile male caused by an alteration under a PCR primer. Int J Androl 2002;25:352–357
ACKNOWLEDGMENTS
The financial support of Novo Nordisk, Danish Medical Research Council, Aarhus Universitet Forskningsinititativ, and Institute of Experimental Clinical Research at Aarhus University are gratefully acknowledged. We thank Anne Ringgaard and Margit Palm Lind for their technical support.
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Bor, P., Hindkjær, J., Kølvraa, S. et al. Screening for Y microdeletions in men with testicular cancer and undescended testis. J Assist Reprod Genet 23, 41–45 (2006). https://doi.org/10.1007/s10815-005-9001-5
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DOI: https://doi.org/10.1007/s10815-005-9001-5