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CLINICAL ASPECTS OF THE GENETICS OF MALE INFERTILITY REVIEW

Clinical evaluation of the infertile male with respect to genetic etiologies

Pages 72-77 | Received 28 May 2010, Accepted 28 Aug 2010, Published online: 05 Jan 2011

References

  • Bareil, C., Guittard, C., Altieri, J.P., Templin, C., Claustres, M. and des Georges, M. (2007) Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders. J Mol Diagn 9:582–588.
  • Bojesen, A. and Gravholt, C.H. (2007) Klinefelter syndrome in clinical practice. Nat Clin Pract Urol 4:192–204.
  • Brandell, R.A., Mielnik, A., Liotta, D., Ye, Z., Veeck, L.L., Palermo, G.D., (1998) AZFb deletions predict the absence of spermatozoa with testicular sperm extraction: preliminary report of a prognostic genetic test. Hum Reprod 13:2812–2815.
  • Database, Cystic Fibrosis Mutation (CFM). http://www.genet.sickkids.on.ca/cftr.
  • Fullerton, G., Hamilton, M. and Maheshwari, A. (2010) Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009? Hum Reprod 25:588–597.
  • Hopps, C.V., Mielnik, A., Goldstein, M., Palermo, G.D., Rosenwaks, Z. and Schlegel, P.N. (2003) Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions. Hum Reprod 18:1660–1665.
  • Kamp, C., Hirschmann, P., Voss, H., Huellen, K. and Vogt, P.H. (2000) Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events. Hum Mol Genet 9:2563–2572.
  • Krausz, C. and Degl'Innocenti, S. (2006) Y chromosome and male infertility: update, 2006. Front Biosci 11:3049–3061.
  • Krausz, C., Quintana-Murci, L. and McElreavey, K. (2000) Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis? Hum Reprod 15:1431–1434.
  • Kuroda-Kawaguchi, T., Skaletsky, H., Brown, L.G., Minx, P.J., Cordum, H.S., Waterston, R.H., (2001) The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 29:279–286.
  • Lange, J., Skaletsky, H., van Daalen, S.K., Embry, S.L., Korver, C.M., Brown, L.G., (2009) Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes. Cell 138:855–869.
  • Matzuk, M.M. and Lamb, D.J. (2008) The biology of infertility: research advances and clinical challenges. Nat Med 14:1197–1213.
  • Nuti, F. and Krausz, C. (2008) Gene polymorphisms/mutations relevant to abnormal spermatogenesis. Reprod Biomed Online 16:504–513.
  • Oates, R. and Lamb, D. (2009) Genetic aspects of infertility. In Infertility in the male eds. L. Lipshultz, , Cambridge University Press, New York, NY pp. 251–276.
  • Oates, R.D. (2003) Clinical and diagnostic features of patients with suspected Klinefelter syndrome. J Androl 24:49–50.
  • Oates, R.D. and Amos, J.A. (1994) The genetic basis of congenital bilateral absence of the vas deferens and cystic fibrosis. J Androl 15:1–8.
  • Oates, R.D., Silber, S., Brown, L.G. and Page, D.C. (2002) Clinical characterization of 42 oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children conceived via ICSI. Hum Reprod 17:2813–2824.
  • Paduch, D.A., Fine, R.G., Bolyakov, A. and Kiper, J. (2008) New concepts in Klinefelter syndrome. Curr Opin Urol 18:621–627.
  • Patrat, C., Bienvenu, T., Janny, L., Faure, A.K., Fauque, P., Aknin-Seifer, I., (2010) Clinical data and parenthood of 63 infertile and Y-microdeleted men. Fertil Steril 93:822–832.
  • Ratbi, I., Legendre, M., Niel, F., Martin, J., Soufir, J. C., Izard, V., (2007) Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. Hum Reprod 22:1285–1291.
  • Reijo, R., Lee, T.Y., Salo, P., Alagappan, R., Brown, L. G., Rosenberg, M., (1995) Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 10:383–393.
  • Repping, S., Skaletsky, H., Lange, J., Silber, S., Van Der Veen, F., Oates, R.D., (2002) Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am J Hum Genet 71:906–922.
  • Samli, H., Samli, M.M., Yilmaz, E. and Imirzalioglu, N. (2006) Clinical, andrological and genetic characteristics of patients with congenital bilateral absence of vas deferens (CBAVD). Arch Androl 52:471–477.
  • Schiff, J.D., Palermo, G.D., Veeck, L.L., Goldstein, M., Rosenwaks, Z. and Schlegel, P.N. (2005) Success of testicular sperm extraction [corrected] and intracytoplasmic sperm injection in men with Klinefelter syndrome. J Clin Endocrinol Metab 90:6263–6267.
  • Sciurano, R.B., Luna Hisano, C.V., Rahn, M.I., Brugo Olmedo, S., Rey Valzacchi, G., Coco, R., (2009) Focal spermatogenesis originates in euploid germ cells in classical Klinefelter patients. Hum Reprod 24:2353–2360.
  • Sigman, M., Lipshultz, L. and Howards, S. (2009) Office evaluation of the subfertile male. In Infertility in the male eds. L. Lipshultz, , Cambridge University Press, New York, NY pp. 153–176.
  • Simoni, M., Bakker, E. and Krausz, C. (2004) EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004. Int J Androl 27:240–249.
  • Simoni, M., Tuttelmann, F., Gromoll, J. and Nieschlag, E. (2008) Clinical consequences of microdeletions of the Y chromosome: the extended Munster experience. Reprod Biomed Online 16:289–303.
  • Skaletsky, H., Kuroda-Kawaguchi, T., Minx, P.J., Cordum, H.S., Hillier, L., Brown, L. G., (2003) The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423:825–837.
  • Staessen, C., Tournaye, H., Van Assche, E., Michiels, A., Van Landuyt, L., Devroey, P., (2003) PGD in 47,XXY Klinefelter's syndrome patients. Hum Reprod Update 9:319–330.
  • Stouffs, K., Lissens, W., Tournaye, H., Van Steirteghem, A. and Liebaers, I. (2005) The choice and outcome of the fertility treatment of 38 couples in whom the male partner has a Yq microdeletion. Hum Reprod 20:1887–1896.
  • Sun, C., Skaletsky, H., Rozen, S., Gromoll, J., Nieschlag, E., Oates, R., (2000) Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses. Hum Mol Genet 9:2291–2296.
  • Swerdlow, A.J., Schoemaker, M.J., Higgins, C.D., Wright, A.F. and Jacobs, P.A. (2005) Cancer incidence and mortality in men with Klinefelter syndrome: a cohort study. J Natl Cancer Inst 97:1204–1210.
  • Turner, T. (2009) The epididymis and accessory sex organs. In Infertility in the male eds. L. Lipshultz, , Cambridge University Press, New York, NY pp. 90–103.
  • Uzun, S., Gokce, S. and Wagner, K. (2005) Cystic fibrosis transmembrane conductance regulator gene mutations in infertile males with congenital bilateral absence of the vas deferens. Tohoku J Exp Med 207:279–285.
  • Vogt, P.H. (2005) AZF deletions and Y chromosomal haplogroups: history and update based on sequence. Hum Reprod Update 11:319–336.
  • Vorona, E., Zitzmann, M., Gromoll, J., Schuring, A.N. and Nieschlag, E. (2007) Clinical, endocrinological and epigenetic features of the 46, XX male syndrome compared to 47, XXY Klinefelter patients. J Clin Endocrinol Metab 92:3458–3465.
  • Wang, T., Liu, J.H., Yang, J., Chen, J. and Ye, Z.Q. (2009) 46, XX male sex reversal syndrome: a case report and review of the genetic basis. Andrologia 41:59–62.
  • Wilschanski, M., Dupuis, A., Ellis, L., Jarvi, K., Zielenski, J., Tullis, E., (2006) Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials. Am J Respir Crit Care Med 174:787–794.
  • Yoshida, A., Miura, K., Nagao, K., Hara, H., Ishii, N. and Shirai, M. (1997) Sexual function and clinical features of patients with Klinefelter's syndrome with the chief complaint of male infertility. Int J Androl 20:80–85.

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