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The Relationship Between Chromosomal Polymorphism and Male Reproductive Abnormalities

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Abstract

This study aims to investigate the association between chromosomal polymorphisms and abnormalities in male reproductive health. Within the period from January 2018 to December 2022, a cohort of 10,827 males seeking fertility services at our reproductive center was selected for inclusion in this study. Peripheral blood chromosomal karyotype analysis was conducted for each participant to identify carriers of chromosomal polymorphisms, who were subsequently categorized into a polymorphism group. Additionally, a control group was constituted by randomly selecting 1,630 patients exhibiting normal chromosomal karyotypes. The study conducted statistical analyses to compare clinical outcomes between the two groups, focusing on infertility, history of spontaneous miscarriage in partners, anomalies in reproductive development, fetal abnormalities, and sperm quality metrics. (1) Among the cohort of 10,827 males, chromosomal polymorphisms were identified in 1,622 participants, yielding a detection rate of 14.98%. This rate is significantly elevated in comparison to the baseline prevalence of 1.77% observed in the general population. (2) The predominant variant among these polymorphisms was related to the Y chromosome, accounting for 1,082 cases (66.71% of the polymorphic findings), corresponding to a detection rate of 9.99%. This is markedly higher than the approximate 0.09% prevalence noted within a normative demographic. (3) Statistical analysis revealed significant disparities between the chromosomal polymorphism group and the control group in several clinical outcomes. Notably, the rates of spontaneous abortion (18.06% vs. 1.35%), fetal anomalies (1.97% vs. 0.25%), and poor sperm quality (41.74% vs. 7.18%) were markedly higher in the polymorphism group. Additionally, incidences of testicular dysgenesis (2.28% vs. 0.92%) and hypogonadism in partners (0.62% vs. 0.37%) also demonstrated significant differences, underscoring the potential reproductive implications of chromosomal polymorphisms. The study establishes a significant link between chromosomal polymorphisms and critical reproductive outcomes, including male infertility, spontaneous miscarriages in partners, fetal anomalies, and reduced sperm quality. These findings highlight the clinical relevance of chromosomal polymorphisms in reproductive health assessments and suggest the necessity for their consideration in the diagnostic and therapeutic strategies for male reproductive disorders.

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Acknowledgements

This project comes from the Weifang Science and Technology Development Plan project (project number: 2020YX042).

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Author notes

  1. Cui Chen and Junyi Jiang contributed equally to this work and should be considered co-first authors.

Authors and Affiliations

  1. Department of Reproductive Medicine, Affiliated Hospital of Shandong Second Medical University, Weifang, China

    Cui Chen, Junyi Jiang, Xiaojing Cheng & Guiling Wang

  2. Clinical Medicine School of Affiliated Hospital of Shandong Second Medical University, Weifang, China

    Qin Yang

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  1. Cui Chen
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Correspondence to Guiling Wang.

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Chen, C., Jiang, J., Yang, Q. et al. The Relationship Between Chromosomal Polymorphism and Male Reproductive Abnormalities. Reprod. Sci. (2024). https://doi.org/10.1007/s43032-024-01530-x

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