Skip to main content
SpringerLink
Log in

Case of successful IVF treatment of an oligospermic male with 46,XX/46,XY chimerism

  • Assisted Reproduction Technologies
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Introduction

We present a case of an infertile male with 46,XX/46,XYchimerism fathering a child after ICSI procedure.

Methods

Conventional cytogenetic analysis on chromosomes, derived from lymphocytes, using standard Q-banding procedures with a 450–550-band resolution and short-tandem-repeat analysis of 14 loci.

Results

Analysis of 20 metaphases from lymphocytes indicated that the proband was a karyotypic mosaic with an almost equal distribution between male and female cell lines. In total, 12 of 20 (60%) metaphases exhibited a normal female karyotype 46,XX, while 8 of 20 (40%) metaphases demonstrated a normal male karyotype 46,XY. No structural chromosomal abnormalities were present. Out of 14 STR loci, two loci (D18S51 and D21S11) showed four different alleles in peripheral blood, buccal mucosal cells, conjunctival mucosal cells, and seminal fluid. In three loci (D2S1338, D7S820, and vWA), three alleles were detected with quantitative differences that indicated presence of four alleles. In DNA extracted from washed semen, four alleles were detected in one locus, and three alleles were detected in three loci. This pattern is consistent with tetragametic chimerism. There were no quantitative significant differences in peak heights between maternal and paternal alleles. STR-analysis on DNA from the son confirmed paternity.

Conclusion

We report a unique case with 46,XX/46,XY chimerism confirmed to be tetragametic, demonstrated in several tissues, with male phenotype and no genital ambiguity with oligospermia fathering a healthy child after IVF with ICSI procedure.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  1. Gardner R, Sutherland G, Shaffer L. Chromosome abnormalities and genetic counseling. 4th ed. Oxford: Oxford University Press; 2011.

    Book  Google Scholar 

  2. Tippett P. Blood group chimeras. A review. Vox Sang. 1983;44:333–59.

    PubMed  CAS  Google Scholar 

  3. Dunsford I, Bowley CC, Hutchison AM, Thompson JS, Sanger R, Race RR. A human blood-group chimera. Br Med J. 1953;2:81.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  4. Berger-Zaslav AL, Mehta L, Jacob J, Mercado T, Gadi I, Tepperberg JH, et al. Ovotesticular disorder of sexual development (true hermaphroditism). Urology. 2009;73:293–6.

    Article  PubMed  Google Scholar 

  5. Shin SY, Yoo HW, Lee BH, Kim KS, Seo EJ. Identification of the mechanism underlying a human chimera by SNP array analysis. Am J Med Genet A. 2012;158A:2119–23.

    Article  PubMed  CAS  Google Scholar 

  6. Hong X, Ying Y, Xu X, Liu Y, Chen Z, Lan X, et al. A dispermic chimera was identified in a healthy man with mixed field agglutination reaction in ABO blood grouping and mosaic 46, XY/46, XX karyotype. Transfus Apher Sci. 2013;48:223–8.

    Article  PubMed  Google Scholar 

  7. Bromilow IM, Duguid J. The Liverpool chimaera. Vox Sang. 1989;57:147–9.

    Article  PubMed  CAS  Google Scholar 

  8. Schoenle E, Schmid W, Schinzel A, Mahler M, Ritter M, Schenker T, et al. 46,XX/46,XY chimerism in a phenotypically normal man. Hum Genet. 1983;64:86–9.

    Article  PubMed  CAS  Google Scholar 

  9. Sudik R, Jakubiczka S, Nawroth F, Gilberg E, Wieacker PF. Chimerism in a fertile woman with 46,XY karyotype and female phenotype. Hum Reprod. 2001;16:56–8.

    Article  PubMed  CAS  Google Scholar 

  10. Krob G, Braun A, Kuhnle U. True hermaphroditism: geographical distribution, clinical findings, chromosomes and gonadal histology. Eur J Pediatr. 1994;153:2–10.

    Article  PubMed  CAS  Google Scholar 

  11. Watkins WM, Yates AD, Greenwell P, Bird GW, Gibson M, Roy TC, et al. A human dispermic chimaera first suspected from analyses of the blood group gene-specified glycosyltransferases. J Immunogenet. 1981;8:113–28.

    Article  PubMed  CAS  Google Scholar 

  12. Verp MS, Harrison HH, Ober C, Oliveri D, Amarose AP, Lindgren V, et al. Chimerism as the etiology of a 46,XX/46,XY fertile true hermaphrodite. Fertil Steril. 1992;57:346–9.

    Article  PubMed  CAS  Google Scholar 

  13. Sugawara N, Tokunaga Y, Maeda M, Komaba R, Araki Y. A successful pregnancy outcome using frozen testicular sperm from a chimeric infertile male with a 46, XX/46, XY karyotype: case report. Hum Reprod. 2005;20:147–8.

    Article  PubMed  Google Scholar 

  14. Sugawara N, Kimura Y, Araki Y. Successful second delivery outcome using refrozen thawed testicular sperm from an infertile male true hermaphrodite with a 46, XX/46, XY karyotype: case report. Hum Cell. 2012;25:96–9.

    Article  PubMed  Google Scholar 

  15. Simoni M, Bakker E, Eurlings MC, Matthijs G, Moro E, Muller CR, et al. Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions. Int J Androl. 1999;22:292–9.

    Article  PubMed  CAS  Google Scholar 

  16. Aksglaede L, Andersson AM, Jorgensen N, Jensen TK, Carlsen E, McLachlan RI, et al. Primary testicular failure in Klinefelter’s syndrome: the use of bivariate luteinizing hormone-testosterone reference charts. Clin Endocrinol. 2007;66:276–81.

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. The Fertility Clinic, Skive Regional Hospital, Skive, Denmark

    R. J. Laursen, B. Alsbjerg, H. Elbaek & P. Humaidan

  2. Health, Aarhus University, Aarhus, Denmark

    B. Alsbjerg & P. Humaidan

  3. Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark

    I. Vogel, D. L. Lildballe & E. M. Vestergaard

  4. Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark

    C. H. Gravholt

  5. Department of Molecular Medicine (MOMA), Aarhus University Hospital, Aarhus, Denmark

    C. H. Gravholt

Authors
  1. R. J. Laursen
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. B. Alsbjerg
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. I. Vogel
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. C. H. Gravholt
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. H. Elbaek
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. D. L. Lildballe
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. P. Humaidan
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. E. M. Vestergaard
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to R. J. Laursen.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Laursen, R.J., Alsbjerg, B., Vogel, I. et al. Case of successful IVF treatment of an oligospermic male with 46,XX/46,XY chimerism. J Assist Reprod Genet 35, 1325–1328 (2018). https://doi.org/10.1007/s10815-018-1194-5

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10815-018-1194-5

Keywords

Search

Navigation