本研究旨在探讨染色体多态性与男性生殖健康异常之间的关系。在2018年1月至2022年12月期间,选择了在我们的生殖中心寻求生育服务的10,827名男性纳入本研究。对每个参与者进行外周血染色体核型分析,以确定染色体多态性的携带者,他们随后被归类为多态性组。此外,对照组随机选择1,630例染色体核型正常的患者。这项研究进行了统计分析,以比较两组之间的临床结果,专注于不孕症,伴侣自发流产的历史,生殖发育异常,胎儿异常,和精子质量指标。(1)在10,827名男性中,在1,622名参与者中发现了染色体多态性,检出率为14.98%。与在一般人群中观察到的1.77%的基线患病率相比,该比率显著升高。(2)这些多态性中的主要变异与Y染色体有关,占1082例(多态发现的66.71%),对应的检出率为9.99%。这明显高于规范人口统计学中指出的约0.09%的患病率。(3)统计学分析显示,染色体多态性组与对照组在几个临床结果上存在显着差异。值得注意的是,自然流产率(18.06%vs.1.35%),胎儿畸形(1.97%vs.0.25%),精子质量差(41.74%vs.7.18%)在多态性组中明显更高。此外,睾丸发育不全的发生率(2.28%vs.0.92%)和伴侣性腺机能减退(0.62%vs.0.37%)也表现出显著差异,强调染色体多态性的潜在生殖影响。该研究建立了染色体多态性与关键生殖结局之间的重要联系,包括男性不育,伴侣自发流产,胎儿畸形,精子质量下降。这些发现强调了染色体多态性在生殖健康评估中的临床相关性,并建议在男性生殖疾病的诊断和治疗策略中考虑它们的必要性。
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.