Fertility and Sterility
Volume 94, Issue 5 , Pages 1753-1756 , October 2010

A decade of experience emphasizes that testing for Y microdeletions is essential in American men with azoospermia and severe oligozoospermia

Presented at 2008 meeting of the American Society for Reproductive Medicine, San Francisco, CA, November 8–12, 2008.

  • Peter J. Stahl, M.D.

      Affiliations

    • Department of Urology, Weill Cornell Medical College, New York, New York
    • ,
  • Puneet Masson, M.D.

      Affiliations

    • Department of Urology, Weill Cornell Medical College, New York, New York
    • ,
  • Anna Mielnik, M.S.

      Affiliations

    • Population Council, The Rockefeller University, New York, New York
    • ,
  • Michael B. Marean, M.D.

      Affiliations

    • Department of Urology, Weill Cornell Medical College, New York, New York
    • ,
  • Peter N. Schlegel, M.D.

      Affiliations

    • Department of Urology, Weill Cornell Medical College, New York, New York
    • Population Council, The Rockefeller University, New York, New York
    • ,
  • Darius A. Paduch, M.D., Ph.D.

      Affiliations

    • Department of Urology, Weill Cornell Medical College, New York, New York
    • Population Council, The Rockefeller University, New York, New York
    • Corresponding Author InformationReprint requests: Darius A. Paduch, M.D., Ph.D., Weill Cornell Medical College, Urology, Starr 900, 525 East 68 Street, New York, NY 10065 (FAX: 212 746 7287).

Received 4 June 2009 ,Revised 31 July 2009 ,Accepted 8 September 2009.

References 

  1. 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
  2. Kuroda-Kawaguchi T, Skaletsky H, Brown L, Minx P, Cordum H, Waterston R, et al. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet. 2001;29:279–286
  3. Repping S, Skaletsky H, Lange J, Silber S, Van Der Veen F, Oases RD, et al. Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am J Hum Genet. 2002;71:906–922
  4. Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, Brown LG, et al. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature. 2003;423:825–837
  5. Lee SH, Ahn SY, Lee KW, Kwack K, Jun HS, Cha KY. Intracytoplasmic sperm injection may lead to vertical transmission, expansion, and de novo occurrence of Y-chromosome microdeletions in male fetuses. Fertil Steril. 2006;85:1512–1515
  6. Oates RD, Silber S, Brown LG, Page DC. 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. 2002;17:2813–2824
  7. Simoni M, Bakker E, Krausz C. EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004. Intern J Androl. 2004;27:240–249
  8. Male Infertility Best Practice Policy Committee of the American Urological Association . Practice Committee of the American Society for Reproductive Medicine. Report on optimal evaluation of the infertile male. Fertil Steril. 2006;86(5 Suppl):S202–S209
  9. Aknin-Seifer IE, Lejeune H, Touraine RL, Levy R. Societe d'Andrologie de Langue Française. Y chromosome microdeletion screening in infertile men in France: a survey of French practice based on 88 IVF centres. Hum Reprod. 2004;19:788–793
  10. Simoni M, Tuttelmann F, Gromoll J, Nieschlag E. Clinical consequences of microdeletions of the Y chromosome: the extended Munster experience. Reprod Biomed Online. 2008;16:289–303
  11. Ferlin A, Arredi B, Speltra E, Cazzadore C, Selice R, Garolla A, et al. Molecular and clinical characterization of Y chromosome microdeletions in infertile men: a 10-year experience in Italy. J Clin Endocrinol Metab. 2007;92:762–770
  12. Choi J, Chung P, Veeck L, Mielnik A, Palermo G, Schlegel PN. AZF microdeletions of the Y chromosome and in vitro fertilization outcome. Fertil Steril. 2004;81:337–341
  13. Hopps C, Mielnik A, Goldstein M, Palermo G, Rosenwaks Z, Schlegel PN. Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions. Hum Reprod. 2003;18:1660–1665
  14. Walsh TJ, Reijo R, Turek PJ. The genetics of male infertility. Semin Reprod Med. 2009;27:124–136
  15. Girardi S, Mielnik A, Schlegel PM. Submicroscopic deletions in the Y chromosome of infertile men. Hum Reprod. 1997;12:1635–1641
  16. Schlegel PN. Testicular sperm extraction: microdissection improves sperm yield with minimal tissue excision. Hum Reprod. 1999;14:131–135
  17. Kostiner DR, Turek PJ, Reijo RA. Male infertility: analysis of the markers and genes on the human Y chromosome. Hum Reprod. 1998;13:3032–3038
  18. Krausz C, Degl'Inocenti S. Y chromosome and male infertility: update, 2006. Front Biosci. 2006;11:3049–3061
  19. Schiff JD, Palermo GD, Veeck LL, Goldstein M, Rosenwaks Z, Schlegel PN. Success of testicular sperm extraction and intracytoplasmic sperm injection in men with Klinefelter's syndrome. J Clin Endocrinol Metab. 2005;90:6263–6267
  20. Raman JD, Schlegel PN. Testicular sperm extraction with intracytoplasmic sperm injection is successful for the treatment of nonobstructive azoospermia associated with cryptorchidism. J Urol. 2003;170:1287–1290

 P.J.S. has nothing to disclose. P.M. has nothing to disclose. A.M. has nothing to disclose. M.B.M. has nothing to disclose. P.N.S. has nothing to disclose. D.A.P. has nothing to disclose.

PII: S0015-0282(09)03685-1

doi: 10.1016/j.fertnstert.2009.09.006

Fertility and Sterility
Volume 94, Issue 5 , Pages 1753-1756 , October 2010

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