OBJECTIVE To test the hypothesis that telomere shortening and/or loss are risk factors for infertility. DESIGN Retrospective analysis of the telomere status in patients with infertility using conventional cytogenetic data collected prospectively. SETTING Academic centers. PATIENT(S) Cytogenetic slides with cultured peripheral lymphocytes from 50 patients undergoing fertility treatment and 150 healthy donors, including 100 donors matched for age. INTERVENTION(S) Cytogenetic slides were used to detect chromosomal and telomere aberrations. MAIN OUTCOME MEASURE(S) Telomere length and telomere aberrations were analyzed after telomere and centromere staining. RESULT(S) The mean telomere length of patients consulting for infertility was significantly less than that of healthy donors of similar age. Moreover, patients with infertility showed significantly more extreme telomere loss and telomere doublet formation than healthy controls. Telomere shortening and/or telomere aberrations were more pronounced in patients with structural chromosomal aberrations. Dicentric chromosomes were identified in 6/13 patients, with constitutional chromosomal aberrations leading to chromosomal instability that correlated with chromosomal end-to-end fusions. CONCLUSION(S) Our findings demonstrate the feasibility of analyzing telomere aberrations in addition to chromosomal aberrations, using cytogenetic slides. Telomere attrition and/or dysfunction represent the main common cytogenetic characteristic of patients with infertility, leading to potential implications for fertility assessment. Pending further studies, these techniques that correlate the outcome of assisted reproduction and telomere integrity status may represent a novel and useful diagnostic and/or prognostic tool for medical care in this field.

中文翻译：

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不孕症患者的端粒畸变，包括端粒丢失、双峰和极度缩短

目的 检验端粒缩短和/或丢失是不孕症危险因素的假设。设计 使用前瞻性收集的常规细胞遗传学数据对不孕症患者的端粒状态进行回顾性分析。设置学术中心。PATIENT(S) 来自 50 名接受生育治疗的患者和 150 名健康捐赠者（包括 100 名年龄匹配的捐赠者）的培养外周淋巴细胞的细胞遗传学载玻片。干预措施 细胞遗传学载玻片用于检测染色体和端粒畸变。主要结果测量在端粒和着丝粒染色后分析端粒长度和端粒畸变。结果 咨询不孕症患者的平均端粒长度显着小于类似年龄的健康供体。而且，与健康对照组相比，不孕症患者的端粒丢失和端粒双联体形成明显更严重。端粒缩短和/或端粒畸变在染色体结构畸变患者中更为明显。在 6/13 患者中鉴定出双着丝粒染色体，染色体组成畸变导致与染色体端到端融合相关的染色体不稳定性。结论我们的研究结果证明了使用细胞遗传学载玻片分析除染色体畸变之外的端粒畸变的可行性。端粒磨损和/或功能障碍代表了不孕症患者的主要常见细胞遗传学特征，对生育评估有潜在影响。有待进一步研究，