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Distinctive pattern of expression of spermatogenic molecular markers in testes of azoospermic men with non-mosaic Klinefelter syndrome

  • Genetics
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Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

Mature sperm cells can be found in testicular specimens extracted from azoospermic men with non-mosaic Klinefelter syndrome (KS). The present study evaluates the expression of various known molecular markers of spermatogenesis in a population of men with KS and assesses the ability of those markers to predict spermatogenesis.

Methods

Two groups of men with non-obstructive azoospermia who underwent testicular sperm-retrieval procedures were included in the study: 31 had non-mosaic KS (KS group) and 91 had normal karyotype (NK group). Each group was subdivided into mixed atrophy (containing some mature sperm cells) or Sertoli cell only syndrome according to testicular histology and cytology observations. Semi-quantitative histological morphometric analysis (interstitial hyperplasia and hyalinization, tubules with cells and abnormal thickness of the basement membrane) and expression of spermatogenetic markers (DAZ, RBM, BOLL, and CDY1) were evaluated and compared among those subgroups.

Results

Clear differences in the histological morphometry and spermatogenetic marker expression were noted between the KS and NK groups. There was a significant difference in the expression of spermatogenetic markers between the subgroups of the NK group (as expected), while no difference could be discerned between the two subgroups in the KS group.

Conclusion

We conclude that molecular spermatogenetic markers have a pattern of expression in men with KS that is distinctively different from that of men with NK, and that it precludes and limits their use for predicting spermatogenesis in the former. It is suggested that this difference might be due to the specific highly abnormal histological morphometric parameters in KS specimens.

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Acknowledgments

The authors thank Esther Eshkol for editorial assistance and Ilana Gelenter (Statistical Department, Tel Aviv University) for expert statistical analysis.

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Authors and Affiliations

  1. Institute for the Study of Fertility, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, 6 Weizman Street, Tel Aviv, 6423906, Israel

    Sandra E. Kleiman, Leah Yogev, Ofer Lehavi, Haim Yavetz & Ron Hauser

Authors
  1. Sandra E. Kleiman
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  2. Leah Yogev
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  3. Ofer Lehavi
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  4. Haim Yavetz
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  5. Ron Hauser
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Corresponding author

Correspondence to Sandra E. Kleiman.

Ethics declarations

The present study was approved by the local Institutional Review Board (IRB) committee in accordance with the Helsinki Declaration of 1975, and all the participants signed a written consent.

Conflict of interest

All authors declare no competing financial interests.

Ethical approval

All procedures performed in the study involving human participants were in accordance with the ethical standards of the local Institutional Review Board (IRB) committee in accordance with the Helsinki Declaration of 1975.

Additional information

Capsule Molecular spermatogenetic markers have a distinct pattern of expression in non-mosaic Klinefelter syndrome that precludes their use for the prediction of spermatogenesis in affected men.

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Supplementary Table 1

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Supplementary Fig. 1

Percent of specimens with mixed atrophy and Sertoli cells only (SCO) subgroups expressing the spermatogenetic genes tested. a NOA men with normal karyotype; b NOA men with normal karyotype and high FSH levels (PPTX 41.9 kb)

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Kleiman, S.E., Yogev, L., Lehavi, O. et al. Distinctive pattern of expression of spermatogenic molecular markers in testes of azoospermic men with non-mosaic Klinefelter syndrome. J Assist Reprod Genet 33, 807–814 (2016). https://doi.org/10.1007/s10815-016-0698-0

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  • DOI: https://doi.org/10.1007/s10815-016-0698-0

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