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Non-chimerism and chimerism pseudo dicentric Y chromosome: two case reports about azoospermia and cytogenetic/molecular genetic analysis in the Chinese population

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

Abstract

Objective

To report the cytogenetic and molecular genetic analysis of the first two cases of non-chimerism and chimerism karyotype in Chinese male patients who suffer from azoospermia, which may be caused by pseudo dicentric Y chromosomes.

Design

Case study.

Setting

Academic reproductive medicine center.

Patients

Two male patients with azoospermia, carrying pseudo dicentric Y chromosome.

Interventions

Review the records of inquiry, testicular biopsy, pathological examination, semen routine examination, endocrine evaluation, cytogenetic chromosomal analysis, and FISH detection of peripheral blood to evaluate Y chromosome deletion.

Main outcome measures

To investigate the possible association among pseudo dicentric Y, chimeric status and azoospermia.

Results

Two patients were both diagnosed with azoospermia by a variety of andrology inspections. Further chromosomal analysis and FISH indicated their pseudo dicentric Y chromosome and different chimerism status. PCR confirmed simultaneous deletions of AZFb and AZFc regions in the Y chromosome of both patients.

Conclusions

Pseudodicentric Y chromosome affecting the long arm may lead to a male phenotype by duplicating the sex-determining region of Y chromosome (SRY) fragment and chimeric status may further impact patient's hormone levels, which obstruct spermatogenesis. However, the deletion of the azoospermia factor (AZF) is likely the key factor that causes azoospermia.

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Acknowledgments

The authors appreciate Qiwie Guo, Ling-Yuan KONG, Liang-Kai ZHENG, Huan ZENG, Hui KONG, Chun-Hua ZENG, Ling-ZHANG from Women and Children Health Care Hospital of Xiamen City in China for their technical assistance and insightful comments. The authors also thank Ronghua Yang from School of Medicine at University of Connecticut for her insightful comments. This work is supported by Xiamen City Science Fund Project (3502Z20124058) and Fujian Ministry of Healthcare Youth Scientist Fund Project (2010-2-108).

Statements of conflicting interest and financial disclosure

The authors have declared that no conflicts of interest exist with respect to the authorship and/or publication of this article. There has been no significant financial support for this work that could have influenced its outcome.

Statements of integrity of research and reporting

The authors have declared that all patients gave their informed consent prior to their inclusion in the report. The study is approved by the ethics committee of Women and Children Health Care Hospital of Xiamen City and is in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments.

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Authors and Affiliations

  1. Center of Reproductive Medicine, Women and Children Health Care Hospital of Xiamen City, Xiamen City, Fujian Province, China, 361003

    Ping Li, Lu Ding, Yan-Wei Sha, Yue-Qiang Song, Jin Lin & Mingyu She

  2. Maternal Fetal Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, 21224, USA

    Erika F. Werner

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  1. Ping Li
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  2. Lu Ding
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  7. Mingyu She
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Correspondence to Mingyu She.

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Capsule

Pseudo dicentric Y may lead to a male phenotype by duplicating SRY and spermatogenesis of individuals may be affected. However, AZF deletions may be the key factor that causes azoospermia.

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Li, P., Ding, L., Sha, YW. et al. Non-chimerism and chimerism pseudo dicentric Y chromosome: two case reports about azoospermia and cytogenetic/molecular genetic analysis in the Chinese population. J Assist Reprod Genet 30, 539–546 (2013). https://doi.org/10.1007/s10815-013-9969-1

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  • DOI: https://doi.org/10.1007/s10815-013-9969-1

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