Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
Andromed Health & Reproduction, Reproductive Health Diagnostic Center, Athens, Greece.
Urol J. 2024 Jun 9;21(4):200-207. doi: 10.22037/uj.v20i.8008.
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.
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.
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%.
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.
在辅助生殖时代，临床实践中的某些遗传筛查方法仍存在诊断上的模糊性。即使是最新的指南也没有提供关于测试方案的确切指导，这使得临床医生必须仔细确定哪些测试最能满足不孕患者的需求。当前男性生育力评估实践的不统一可能会带来相当大的成本，因此需要医疗保健从业者仔细评估必要性，并权衡潜在的经济和心理危害。本综述的目的是绘制有关不育男性常规核型分析和/或 AZF 筛查临床指征的现有文献图谱，确定关键概念，确定空白点，并从方法学或学科差异很大的知识体系中得出结论。
直到 2023 年 7 月，我们使用 PubMed（MEDLINE）对已发表的发现进行了全面搜索。该全面搜索涉及单独或组合使用特定的搜索关键词。使用的搜索词如下：“核型”、“克莱恩费尔特”或“KS”或“47,XXY”、“AZF”或“无精子症*”和/或“微缺失*”在标题或摘要中。获得选定文章的标题和摘要后，仔细审查了相关论文的全文。
从 PubMed 中确定了 191 条记录。在筛选过程中，淘汰了 161 条记录（84.3%）。最后，共有 30 篇论文纳入本范围综述，该综述在 18 个国家进行。研究中使用的序列标签位点（STSs）数量从 5 到 59 不等。无精子症患者中 AZF 缺失的发生率为 1.3%至 53%。估计平均频率为 5.6%。在 30 项研究中的 19 项研究（63%）中，XXY 核型患者的 YCM 率为零，而在其余研究中，该率从 0.8%到 67%不等。
本综述提供了有关男性不育症管理的见解。对于存在 AZFb/AZFbc 微缺失的个体，不能排除精子在射精和成功手术采集中的存在。对于嵌合体或经典 KS，不需要进行 Y 染色体微缺失筛查。只有 1%的精子浓度超过 1×106 个/mL 且低于 5×106 个/mL 的个体存在 AZF 微缺失；因此，可能需要重新评估此类人群的检测转诊。具有嵌合体单体 X 染色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。
