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Analysis of Spermatozoa from Seven ICSI Males with Constitutional Sex Chromosomal Abnormalities by Fluorescent In Situ Hybridization

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Abstract

Purpose: The objective was to estimate the risk for subfertilemales with a constitutional sex chromosomal abnormalityof transmitting such a chromosome abnormality to theirchildren, conceived by intracytoplasmic sperm injection(ICSI).

Methods: Semen samples were obtained from seven severelyoligospermic ICSI candidates. Six of them had a numericalsex chromosomal abnormality, including mosaic 45,X/46,XY,mosaic 46,XY/47, XXY, 47,XXY (Klinefelter's syndrome), and47,XYY. One male had a structural abnormality, namely, aninversion of the Y chromosome. The semen was studied bythree-color fluorescent in situ hybridization (FISH) withprobes specific for chromosomes 18,X, and Y.

Results: Chromosomal aneuploidy rates of any of the threechromosomes were significantly higher than the aneuploidyrates observed in three control samples but comparable tothe rates observed in 10 ICSI candidates witholigoasthenoteratozoospermia (OAT) and a normal constitutionalkaryotype.

Conclusions: Our data indicate that males with (mosaic) sexchromosomal abnormalities have no higher risk of producingoffspring with a sex chromosomal abnormality by ICSI thanOAT males with a normal karyotype.

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REFERENCES

  1. Liebaers I, Bonduelle M, Van Assche E, Devroey P, Van Steirteghem A: Sex chromosome abnormalities after intracytoplasmic sperm injection. Lancet 1995;346:1095–

    Google Scholar 

  2. Persson JW, Peters GB, Saunders DM: Is ICSI associated with risks of genetic disease? Implications for counselling, practice and research. Hum Reprod 1996;11:921–924

    Google Scholar 

  3. Martin RH: The risk of chromosomal abnormalities following ICSI. Hum Reprod 1996;11:924–925

    Google Scholar 

  4. Pauer HU, Hinney B, Michelmann HW, Krasemann EW, Zoll B, Engel W: Relevance of genetic counseling in couples prior to intracytoplasmic sperm injection. Hum Reprod 1997;12: 1909–1912

    Google Scholar 

  5. In 't Veld PA, Halley DJJ, van Hemel JO, Niermeyer MF, Dohle G, Weber RFA: Genetic counseling before intracytoplasmic sperm injection. Lancet 1997;350:490–

    Google Scholar 

  6. Bonduelle M, Aytoz A, Van Assche E, Devroey P, Liebaers I, Van Steirteghem A: Incidence of chromosomal aberrations in children born after assisted reproduction through intracytoplasmic sperm injection. Hum Reprod 1998;13:781–782

    Google Scholar 

  7. Kurinczuk JJ, Bower C: Birth defects in infants conceived by intracytoplasmic sperm injection: An alternative interpretation. Br Med J 1997;315:1260–1265

    Google Scholar 

  8. Bowen JR, Gibson FL, Leslie GI, Saunders DM: Medical and developmental outcome at 1 year for children conceived by intracytoplasmic sperm injection. Lancet 1998;351:1529–1534

    Google Scholar 

  9. Bonduelle M, Joris H, Hofmans K, I Liebaers, Van Steirteghem: Mental development of 201 ICSI children at 2 years of age. Lancet 1998;351:1553–

    Google Scholar 

  10. Sutcliffe AG, Taylor B, Li J, Thornton S, Gedis Gruzinskas J, Lieberman BA: Children born after intracytoplasmic sperm injection: population control study. Br Med J 1999;318: 704–705

    Google Scholar 

  11. Van Golde R, Boada M, Veiga A, Evers J, Geraedts J, Barri P: A retrospective follow-up on intracytoplasmic study sperm injection. J Assist Reprod Genet 1999;16:227–232

    Google Scholar 

  12. Moosani N, Chernos J, Lowry RB, Martin RH: A 47,XXY fetus resulting from ICSI in a man with an elevated frequency of 24,XY spermatozoa. Hum Reprod 1999;14:1137–

    Google Scholar 

  13. Staessen C, Coonen E, van Assche E, Tournaye H, Joris H, Devroey P, Van Steirteghem AC, Liebaers I: Preimplantation diagnosis for X and Y normality in embryos from three Kline felter patients. Hum Reprod 1996;11:1650–1653

    Google Scholar 

  14. Bourne H, Stern K, Clarke G, Pertile M, Speirs A, Baker HW: Delivery of normal twins following the intracytoplasmic injection of spermatozoa from a patient with 47,XXY Klinefelter's syndrome. Hum Reprod 1997;12:2447–2450

    Google Scholar 

  15. Palermo GD, Schlegel PN, Sills ES, Veeck LL, Zaninovic N, Menendez S, Rosenwaks Z: Brief reports: Birth after intracytoplasmic injection of sperm obtained by testicular extraction from men with nonmosaic Klinefelter's syndrome. N Engl J Med 1998;338:588–590

    Google Scholar 

  16. Giltay JC, Kastrop PMM, Tuerlings JHAM, Kremer JAM, Tiemessen CHJ, Gerssen-Schoorl KBJ, van derVeen F, deVries J, Hordijk R, Hamers GHJ, Hansson K, van der Blij-Philipsen M, Govaerts LCP, Pieters MHEC, Madan K, Scheres JMJC: Subfertile men with constitutive chromosome abnormalities do not necessarily refrain from intracytoplasmic sperm injection treatment: A follow-up study on 75 Dutch patients. Hum Reprod 1999;14:318–320

    Google Scholar 

  17. Ron-El R, Friedler S, Strassburger D, Komarovsky D, Schachter M, Raziel A: Case report. Birth of a healthy neonate following the intracytoplasmic injection of testicular spermatozoa from a patient with Klinefelter's syndrome. Hum Reprod 1999;14:368–370

    Google Scholar 

  18. Giltay JC, Kastrop PMM, Tiemessen CHJ, van Inzen WG, Scheres JMJC, Pearson PL: Sperm analysis in a subfertile male with a Y;16 translocation using four-color FISH. Cytogenet Cell Genet 1999;84:67–72

    Google Scholar 

  19. Guttenbach M, Michelmann HW, Hinney B, Engel W, Schmid M: Segregation of sex chromosomes into sperm nuclei in a man with 47,XXY Klinefelter's karyotype. Hum Genet 1997;99:474–477

    Google Scholar 

  20. Estop AM, Munne S, Cieply KM, Vandermark KK, Lamb AN, Fisch H: Meiotic products of a Klinefelter 47,XXY male as determined by sperm fluorescence in-situ hybridization analyintracytoplassis. Hum Reprod 1998;13:124–127

    Google Scholar 

  21. Foresta C, Galeazzi C, Bettella A, Stella M, Scandellari C: High incidence of sperm sex chromosomes aneuploidies in two patients with Klinefelter's syndrome. J Clin Endocrinol Metab 1998;83:203–205

    Google Scholar 

  22. Chevret E, Rousseaux S, Monteil M, Usson Y, Cozzi J, Pelletier R, Sele B: Increased incidence of hyperhaploid 24,XY spermatozoa detected by three-colour FISH in a 46,XY/47,XXY male. Hum Genet 1996;97:171–175

    Google Scholar 

  23. Araki Y, Motoyama M, Yoshida A, Kamiyama H: In situ hybridization chromosome analysis of XYY and XXY males' spermatozoa. Hum Reprod 1997;12:1604–

    Google Scholar 

  24. Martini E, Geraedts JPM, Liebaers I, Land JA, Capitanio L, Ramaekers FCS, Hopman AHN: Constitution of semen samples from XYY and XXY males as analysed by in-situ hybridization. Hum Reprod 1996;11:1638–1643

    Google Scholar 

  25. Kruse R, Guttenbach M, Schartmann B, Schubert R, van der Ven H, Schmid M, Propping P: Genetic counseling in a patient with XXY/XXXY/XY mosaic Klinefelter's syndrome: Estimate of sex chromosome aberrations in sperm before intracytoplasmic sperm injection. Fertil Steril 1998;69:482–485

    Google Scholar 

  26. Han TH, Ford JH, Flaherty SP, Webb GC, Matthews CD: A fluorescent in situ hybridization analysis of the chromosome constitution of ejaculated sperm in a 47,XYY male. Clin Genet 1994;45:67–70

    Google Scholar 

  27. Chevret E, Rousseaux S, Monteil M, Usson Y, Cozzi J, Pelletier R, Sele B: Meiotic behaviour of sex chromosomes investigated by three-colour FISH on 35142 sperm nuclei from two 47,XYY males. Hum Genet 1997;99:407–412

    Google Scholar 

  28. Blanco J, Rubio C, Simon C, Egozcue J, Vidal F: Increased incidence of disomic sperm nuclei in a 47,XYY male assessed by fluorescent in situ hybridization (FISH). Hum Genet 1997; 99:413–416

    Google Scholar 

  29. Martin RH, McInnes B, Rademaker AW: Analysis of aneuploidy for chromosomes 13, 21, X and Y by multicolour fluorescence in situ hybridisation (FISH) in a 47,XYY male. Zygote 1999;7:131–134

    Google Scholar 

  30. Benet J, Martin RH: Sperm chromosome complements in a 47,XYY man. Hum Genet 1988;78:313–315

    Google Scholar 

  31. Newberg MT, Francisco RG, Pang MG, Brugo S, Doncel GF, Acosta AA, Hoegerman SF, Kearns WG: Cytogenetics of somatic cells and sperm from a 46,XY/45,X mosaic male with moderate oligoasthenoteratozoospermia. Fertil Steril 1998;69: 146–148

    Google Scholar 

  32. Guttenbach M, Engel W, Schmid M: Analysis of structural and numerical chromosome abnormalities in sperm of normal men and carriers of constitutional chromosome aberrations. A review. Hum Genet 1997;100:1–21

    Google Scholar 

  33. Tuerlings JHAM, De France HF, Hamers A, Hordijk R, Van Hemel JO, Hansson K, Hoovers JM, Madan K, Van derBlij-Philipsen M, Gerssen-Schoorl KB, Kremer JA, Smeets DF: Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: The Dutch experience. Eur J Hum Genet 1998;6:194–200

    Google Scholar 

  34. Pang MG, Hoegerman SF, Cuticchia AJ, Moon, Doncel GF, Acosta AA, Kearns WA: Detection of aneuploidy for chromosomes 4,6,7,8,9,10,11,12,13,17,18,21,X and Y by fluorescence in-situ hybridization in spermatozoa from nine patients with oligoasthenoteratozoospermia undergoing intracytoplasmic sperm injection. Hum Reprod 1999;14:1266–1273

    Google Scholar 

  35. Mroz K, Hassold TJ, Hunt PA: Meiotic aneuploidy in the XXY mouse: Evidence that compromised testicular environment increases the incidence of meiotic errors. Hum Reprod 1999; 14:1151–1156

    Google Scholar 

  36. Kastrop PMM, Weima SM, Giltray JC: Detection of aneuploidy in morphologically normal sperm nuclei of ICSI candidates using fluorescence in situ hybridization (FISH). Am J Hum Genet 1998;63:A140

    Google Scholar 

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Authors and Affiliations

  1. Division of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands

    J. C. Giltay

  2. Division of Medical Genetics, University Medical Center Utrecht, P.O. Box 85090, 3508 AB, Utrecht, The Netherlands

    J. C. Giltay

  3. Department of Gynaecology and Obstetrics, University Hospital Nijmegen, Utrecht, The Netherlands

    R. J. T. Van Golde

  4. Division of Obstetrics, Neonatology and Gynaecology, University Medical Center Utrecht, Utrecht, The Netherlands

    P. M. M. Kastrop

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Giltay, J.C., Van Golde, R.J.T. & Kastrop, P.M.M. Analysis of Spermatozoa from Seven ICSI Males with Constitutional Sex Chromosomal Abnormalities by Fluorescent In Situ Hybridization. J Assist Reprod Genet 17, 151–155 (2000). https://doi.org/10.1023/A:1009466105559

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