目的:从诊断的角度来看,在辅助生殖时代,临床实践中某些基因筛查方法仍然模棱两可。即使是最新的指南也没有为测试协议提供明确的指导,让临床医生仔细确定哪些测试最适合患有不孕症的患者。在目前的男性生育率评估实践中缺乏统一性可以证明是相当昂贵的,因此,需要医疗保健从业人员仔细评估必要性,并权衡潜在的经济和心理损害。这篇综述的目的是绘制有关不育男性常规核型分析和/或AZF筛查的临床适应症的一般主题的现有文献,确定关键概念,确定差距在哪里,最后,提供从知识体系中得出的结论的概述,这些知识在方法或学科方面差异很大。材料和方法:使用PubMed(MEDLINE)对截至2023年7月的已发表发现进行了彻底搜索。这种全面的搜索涉及使用特定的搜索关键字,无论是单独或组合。使用的搜索词如下:“核型”,\"Klinefelter\"或\"KS\"或\"47,XXY\",标题或摘要中的\"AZF\"或\"Azoospermi*\"和/或\"microdeletion*\"。一旦获得了选定文章的标题和摘要,链接文件的完整文本经过仔细审查。结果:PubMed共识别出191条记录。在筛选过程中,161条记录(84.3%)被淘汰。最后,这次范围审查包括30篇论文,在18个国家进行。研究中使用的序列标签位点(STS)的数量从5到59不等。NOA患者的AZF缺失率为1.3%~53%。平均频率估计为5.6%。在30项研究中有19项(63%),XXY核型患者的YCM率为零,while,在剩下的研究中,比率从0.8%到67%不等。结论:这篇综述为男性不育症的管理提供了见解。对于AZFb/AZFbc微缺失的个体,不能排除射精中精子的存在和成功的手术取回。对于马赛克或经典KS,不需要筛选Y染色体微缺失。只有1%的精子浓度超过1×106精子/mL和小于5×106精子/mL的个体表现出AZF微缺失;因此,这类人群的转诊测试可能需要重新评估。具有镶嵌X染色体单体核型和某些染色体异常的个体应进行AZF缺失筛查。这些发现对男性不育症管理和未来研究具有重要意义。.
OBJECTIVE: From a diagnostic standpoint, certain approaches to genetic screening in clinical practice remain ambiguous in the era of assisted reproduction. Even the most current guidelines do not provide definite guidance on testing protocols, leaving clinicians to carefully determine which tests best serve patients struggling with infertility. The lack of uniformity in the current practice of male fertility evaluation can prove to be quite costly, thus necessitating healthcare practitioners to carefully appraise the necessity and weigh the advantages against potential economic and psychological detriments. The objective of this
review is to map the existing literature on the general topic of the clinical indications of routine karyotyping and/or AZF screening in infertile men, identify key concepts, determine where the gaps are, and lastly, provide an overview of the conclusions drawn from a body of knowledge that varies widely in terms of methodologies or disciplines.
METHODS: A thorough search was conducted for the published findings up until July 2023, utilizing PubMed (MEDLINE). This comprehensive search involved the use of specific search keywords, either individually or in combination. The search terms employed were as follows: \"Karyotype\", \"Klinefelter\" or \"KS\" or \"47,XXY\", \"AZF\" or \"Azoospermi*\" and/or \"microdeletion*\" in the title or abstract. Once the titles and abstracts of selected articles were obtained, the complete texts of linked papers were meticulously scrutinized.
RESULTS: A total of 191 records were identified from PubMed. During screening, 161 records (84.3%) were eliminated. Finally, 30 papers were included in this scoping
review, which was conducted in 18 countries. The number of sequence tag sites (STSs) used in the studies varied from 5 to 59. The rate of AZF deletions among patients with NOA ranged from 1.3% to 53%. The mean frequency was estimated to be 5.6%. The rate of YCM among patients with XXY karyotype was nil in 19 out of 30 studies (63%), whilst, in the remaining studies, the rate varied from 0.8% to 67%.
CONCLUSIONS: This
review provides insights into managing male infertility. The presence of spermatozoa in ejaculation and successful surgical retrieval cannot be excluded for individuals with AZFb/AZFbc microdeletions. Screening for Y chromosome microdeletions is not needed for mosaic or classic KS. Only 1% of individuals with sperm concentration exceeding 1×106 sperm/mL and less than 5×106 sperm/mL exhibit AZF microdeletions; therefore, testing referral for such populations may need reassessment. Individuals with mosaic monosomy X karyotype and certain chromosomal anomalies should be referred for AZF deletion screening. These findings have implications for male infertility management and future research.