Human Reproduction, Vol. 14, No. 7, 1722-1726,
July 1999
© 1999 European Society of Human Reproduction and Embryology
Men with infertility caused by AZFc deletion can produce sons by intracytoplasmic sperm injection, but are likely to transmit the deletion and infertility
1 Howard Hughes Medical Institute, Whitehead Institute and Department of Biology, Massachusetts Institute of Technology, 9 Cambridge Center, Cambridge, MA 02142, and 2 Infertility Center of St Louis, St Luke's Hospital, St Louis, MO 63017, USA
Deletion of the AZFc region of the Y chromosome is the most frequent molecularly defined cause of spermatogenic failure. We report three unrelated men in whom azoospermia or severe oligozoospermia was caused by de-novo AZFc deletions, and who produced sons by intracytoplasmic sperm injection (ICSI). We employed polymerase chain reaction (PCR) assays to examine the Y chromosomes of their four infant sons. All four sons were found to have inherited the Y chromosome deletions. Such sons are likely to be infertile as adults. This likelihood should be taken into account when counselling couples considering ICSI to circumvent infertility due to severe oligozoospermia or non-obstructive azoospermia.
Key words: /chromosome deletions/ICSI/PCR
3 To whom correspondence should be addressed
![]()
CiteULike
Connotea
Del.icio.us What's this?
This article has been cited by other articles:
![]() |
C. H. Ramlau-Hansen, A. M. Thulstrup, J. Olsen, and J. P. Bonde Parental Subfecundity and Risk of Decreased Semen Quality in the Male Offspring: A Follow-up Study Am. J. Epidemiol., June 15, 2008; 167(12): 1458 - 1464. [Abstract] [Full Text] [PDF] |
||||
![]() |
S. Bhasin Approach to the Infertile Man J. Clin. Endocrinol. Metab., June 1, 2007; 92(6): 1995 - 2004. [Abstract] [Full Text] [PDF] |
||||
![]() |
A. Ferlin, B. Arredi, E. Speltra, C. Cazzadore, R. Selice, A. Garolla, A. Lenzi, and C. Foresta Molecular and Clinical Characterization of Y Chromosome Microdeletions in Infertile Men: A 10-Year Experience in Italy J. Clin. Endocrinol. Metab., March 1, 2007; 92(3): 762 - 770. [Abstract] [Full Text] [PDF] |
||||
![]() |
E. Seli and D. Sakkas Spermatozoal nuclear determinants of reproductive outcome: implications for ART Hum. Reprod. Update, July 1, 2005; 11(4): 337 - 349. [Abstract] [Full Text] [PDF] |
||||
![]() |
K. Stouffs, W. Lissens, H. Tournaye, A. Van Steirteghem, and I. Liebaers The choice and outcome of the fertility treatment of 38 couples in whom the male partner has a Yq microdeletion Hum. Reprod., July 1, 2005; 20(7): 1887 - 1896. [Abstract] [Full Text] [PDF] |
||||
![]() |
J. Gonsalves, F. Sun, P. N. Schlegel, P. J. Turek, C. V. Hopps, C. Greene, R. H. Martin, and R. A. R. Pera Defective recombination in infertile men Hum. Mol. Genet., November 15, 2004; 13(22): 2875 - 2883. [Abstract] [Full Text] [PDF] |
||||
![]() |
J. Gianotten, M.P. Lombardi, A.H. Zwinderman, R. J. Lilford, and F. van der Veen Idiopathic impaired spermatogenesis: genetic epidemiology is unlikely to provide a short-cut to better understanding Hum. Reprod. Update, November 1, 2004; 10(6): 533 - 539. [Abstract] [Full Text] [PDF] |
||||
![]() |
C. Ferras, S. Fernandes, C.J. Marques, F. Carvalho, C. Alves, J. Silva, M. Sousa, and A. Barros AZF and DAZ gene copy-specific deletion analysis in maturation arrest and Sertoli cell-only syndrome Mol. Hum. Reprod., October 1, 2004; 10(10): 755 - 761. [Abstract] [Full Text] [PDF] |
||||
![]() |
K. Aittomaki, U.-B. Wennerholm, C. Bergh, A. Selbing, J. Hazekamp, and K.-G. Nygren Safety issues in assisted reproduction technology: Should ICSI patients have genetic testing before treatment? A practical proposition to help patient information Hum. Reprod., March 1, 2004; 19(3): 472 - 476. [Abstract] [Full Text] [PDF] |
||||
![]() |
J. Gianotten, G.H. Westerveld, N. J. Leschot, M. W.T. Tanck, R. J. Lilford, M.P. Lombardi, and F. van der Veen Familial clustering of impaired spermatogenesis: no evidence for a common genetic inheritance pattern Hum. Reprod., January 1, 2004; 19(1): 71 - 76. [Abstract] [Full Text] [PDF] |
||||
![]() |
J. J. Kurinczuk Safety issues in assisted reproduction technology: From theory to reality--just what are the data telling us about ICSI offspring health and future fertility and should we be concerned? Hum. Reprod., May 1, 2003; 18(5): 925 - 931. [Abstract] [Full Text] [PDF] |
||||
![]() |
D.R. Marchington, M.S.G. Scott Brown, V.K. Lamb, R.J.T. van Golde, J.A.M. Kremer, J.H.A.M. Tuerlings, E.C.M. Mariman, A.H. Balen, and J. Poulton No evidence for paternal mtDNA transmission to offspring or extra-embryonic tissues after ICSI Mol. Hum. Reprod., November 1, 2002; 8(11): 1046 - 1049. [Abstract] [Full Text] [PDF] |
||||
![]() |
R. D. Oates, S. Silber, L. G. Brown, and D. C. Page 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., November 1, 2002; 17(11): 2813 - 2824. [Abstract] [Full Text] [PDF] |
||||
![]() |
C. Rolf, J. Gromoll, M. Simoni, and E. Nieschlag Natural transmission of a partial AZFb deletion of the Y chromosome over three generations: Case report Hum. Reprod., September 1, 2002; 17(9): 2267 - 2271. [Abstract] [Full Text] [PDF] |
||||
![]() |
M.G. Katz, B. Chu, R. McLachlan, N.I. Alexopoulos, D.M. de Kretser, and D.S. Cram Genetic follow-up of male offspring born by ICSI, using a multiplex fluorescent PCR-based test for Yq deletions Mol. Hum. Reprod., June 1, 2002; 8(6): 589 - 595. [Abstract] [Full Text] [PDF] |
||||
![]() |
P. N. Kolettis The Evaluation and Management of the Azoospermic Patient J Androl, May 1, 2002; 23(3): 293 - 305. [Full Text] [PDF] |
||||
![]() |
B. Peterlin, T. Kunej, J. Sinkovec, N. Gligorievska, and B. Zorn Screening for Y chromosome microdeletions in 226 Slovenian subfertile men Hum. Reprod., January 1, 2002; 17(1): 17 - 24. [Abstract] [Full Text] [PDF] |
||||
![]() |
M. Sousa, N. Cremades, C. Alves, J. Silva, and A. Barros Developmental potential of human spermatogenic cells co-cultured with Sertoli cells Hum. Reprod., January 1, 2002; 17(1): 161 - 172. [Abstract] [Full Text] [PDF] |
||||
![]() |
O. Khorram, P. Patrizio, C. Wang, and R. Swerdloff Reproductive Technologies for Male Infertility J. Clin. Endocrinol. Metab., June 1, 2001; 86(6): 2373 - 2379. [Full Text] [PDF] |
||||
![]() |
L. Shanner and J. Nisker Bioethics for clinicians: 26. Assisted reproductive technologies Can. Med. Assoc. J., May 1, 2001; 164(11): 1589 - 1594. [Abstract] [Full Text] [PDF] |
||||
![]() |
C. Foresta, E. Moro, and A. Ferlin Y Chromosome Microdeletions and Alterations of Spermatogenesis Endocr. Rev., April 1, 2001; 22(2): 226 - 239. [Abstract] [Full Text] |
||||
![]() |
S.E. Kleiman, B.B.-S. Maymon, L. Yogev, G. Paz, and H. Yavetz The prognostic role of the extent of Y microdeletion on spermatogenesis and maturity of Sertoli cells Hum. Reprod., March 1, 2001; 16(3): 399 - 402. [Abstract] [Full Text] [PDF] |
||||
![]() |
R. J.T. van Golde, A. M.M. Wetzels, R. de Graaf, J. H.A.M. Tuerlings, D. D.M. Braat, and J. A.M. Kremer Decreased fertilization rate and embryo quality after ICSI in oligozoospermic men with microdeletions in the azoospermia factor c region of the Y chromosome Hum. Reprod., February 1, 2001; 16(2): 289 - 292. [Abstract] [Full Text] [PDF] |
||||
![]() |
S. L. Liow, E. L. Yong, and S. C. Ng Prognostic value of Y deletion analysis: How reliable is the outcome of Y deletion analysis in providing a sound prognosis? Hum. Reprod., January 1, 2001; 16(1): 9 - 12. [Abstract] [Full Text] [PDF] |
||||
![]() |
J. Ramalho-Santos, P. Sutovsky, C. Simerly, R. Oko, G. M. Wessel, L. Hewitson, and G. Schatten ICSI choreography: fate of sperm structures after monospermic rhesus ICSI and first cell cycle implications Hum. Reprod., December 1, 2000; 15(12): 2610 - 2620. [Abstract] [Full Text] [PDF] |
||||
![]() |
C. Le Bourhis, J. P. Siffroi, K. McElreavey, and J. P. Dadoune Y chromosome microdeletions and germinal mosaicism in infertile males Mol. Hum. Reprod., August 1, 2000; 6(8): 688 - 693. [Abstract] [Full Text] [PDF] |
||||
![]() |
C. Krausz, L. Quintana-Murci, and K. McElreavey Prognostic value of Y deletion analysis: What is the clinical prognostic value of Y chromosome microdeletion analysis? Hum. Reprod., July 1, 2000; 15(7): 1431 - 1434. [Abstract] [Full Text] [PDF] |
||||
![]() |
B.B.-S. Maymon, G. Paz, D.J. Elliott, I. Hammel, S.E. Kleiman, L. Yogev, R. Hauser, A. Botchan, and H. Yavetz Maturation phenotype of Sertoli cells in testicular biopsies of azoospermic men Hum. Reprod., July 1, 2000; 15(7): 1537 - 1542. [Abstract] [Full Text] [PDF] |
||||
![]() |
D. Meschede, B. Lemcke, H.M. Behre, Ch. De Geyter, E. Nieschlag, and J. Horst Clustering of male infertility in the families of couples treated with intracytoplasmic sperm injection Hum. Reprod., July 1, 2000; 15(7): 1604 - 1608. [Abstract] [Full Text] [PDF] |
||||
![]() |
D. M. de Kretser and H. W. G. Baker Infertility in Men: Recent Advances and Continuing Controversies J. Clin. Endocrinol. Metab., October 1, 1999; 84(10): 3443 - 3450. [Full Text] [PDF] |
||||
![]() |
Can Boys Inherit Their Fathers' Infertility? Journal Watch Women's Health, September 1, 1999; 1999(901): 1 - 1. [Full Text] |
||||









