少精子症男性 Y 染色体微缺失的流行情况：欧洲和北美的系统评价和荟萃分析。
The Prevalence of Y-chromosome Microdeletions in Oligozoospermic Men: A Systematic Review and Meta-analysis of European and North American Studies.
机构信息
The James Buchanan Brady Urological Institute and Department of Urology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
出版信息
Eur Urol. 2019 Nov;76(5):626-636. doi: 10.1016/j.eururo.2019.07.033. Epub 2019 Aug 8.
CONTEXT
European and North American guidelines recommend Y-chromosome microdeletion (YCM) screening in azoospermic and oligozoospermic men with sperm concentrations of <5 million sperm/ml; however, numerous studies have suggested that YCMs are rare when sperm concentrations are >1 million sperm/ml.
OBJECTIVE
We systematically reviewed and meta-analyzed European and North American studies to determine the prevalence of a complete YCM in oligozoospermic men with sperm concentrations of >0-1, >1-5, and >5-20 million sperm/ml, and to determine whether 1 or 5 million sperm/ml is the most appropriate sperm concentration threshold for YCM screening.
EVIDENCE ACQUISITION
A systematic review of MEDLINE, EMBASE, Cochrane Library, and ClinicalTrials.gov was performed for studies assessing the prevalence of a complete YCM in oligozoospermic men in European and North American studies.
EVIDENCE SYNTHESIS
Thirty-seven studies were identified during a systematic review (n = 12 492 oligozoospermic men). All complete YCMs in oligozoospermic men were AZFc microdeletions. Eighteen studies contained data conducive to meta-analysis (n = 10 866 men). Comparing the pooled estimated prevalence by sperm concentration, complete YCMs were significantly more common in men with sperm concentrations of >0-1 million sperm/ml (5.0% [95% confidence interval {CI}: 3.6-6.8%]) versus >1-5 million sperm/ml (0.8% [95% CI: 0.5-1.3%], p < 0.001). YCMs were similar in men with sperm concentrations of >1-5 and >5-20 million sperm/ml (0.8% [95% CI: 0.5-1.3%] vs 0.5% [95% CI: 0.2-0.9%], p = 0.14).
CONCLUSIONS
In Europe and North America, the majority of YCMs occur in men with sperm concentrations of ≤1 million sperm/ml, with <1% identified in men with >1 million sperm/ml. Male infertility guidelines for North America and Europe should reconsider the sperm concentration screening thresholds to recommend testing for YCMs only for men with sperm concentrations of <1 million sperm/ml.
PATIENT SUMMARY
Complete Y-chromosome microdeletions (YCMs) are rare in men with >1 million sperm/ml. Routine screening for YCMs should occur only if sperm concentration is ≤1 million sperm/ml.
背景
欧洲和北美指南建议对精子浓度<500 万/ml 的无精子症和少精子症男性进行 Y 染色体微缺失（YCM）筛查；然而，许多研究表明，当精子浓度>100 万/ml 时，YCM 很少见。
目的
我们系统地回顾和荟萃分析了欧洲和北美的研究，以确定精子浓度>0-1、>1-5 和>5-20 百万/ml 的少精子症男性中完全 YCM 的患病率，并确定 1 百万/ml 或 5 百万/ml 是否是 YCM 筛查最合适的精子浓度阈值。
证据获取
对 MEDLINE、EMBASE、Cochrane 图书馆和 ClinicalTrials.gov 进行了系统的文献回顾，以评估欧洲和北美研究中少精子症男性中完全 YCM 的患病率。
证据综合
系统综述确定了 37 项研究（n=12492 名少精子症男性）。所有少精子症男性中的完全 YCM 均为 AZFc 微缺失。18 项研究包含有利于荟萃分析的数据（n=10866 名男性）。通过精子浓度进行荟萃分析后发现，与精子浓度>1-5 百万/ml（0.8%[95%置信区间{CI}：0.5-1.3%]）相比，精子浓度>0-1 百万/ml 的男性中完全 YCM 更为常见（5.0%[95% CI：3.6-6.8%]，p<0.001）。精子浓度>1-5 和>5-20 百万/ml 的男性中 YCM 相似（0.8%[95% CI：0.5-1.3%]与 0.5%[95% CI：0.2-0.9%]，p=0.14）。
结论
在欧洲和北美，大多数 YCM 发生在精子浓度≤100 万/ml 的男性中，而精子浓度>100 万/ml 的男性中<1%。北美和欧洲的男性不育指南应重新考虑精子浓度筛查阈值，仅推荐对精子浓度≤100 万/ml 的男性进行 YCM 检测。
患者总结
100 万/ml 的男性中完全 Y 染色体微缺失（YCM）很少见。如果精子浓度≤100 万/ml，则应进行 YCM 的常规筛查。
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