Abstract：
Testing for AZoospermia Factor (AZF) deletions of the Y chromosome is a key component of the diagnostic workup of azoospermic and severely oligozoospermic men. This revision of the 2013 European Academy of Andrology (EAA) and EMQN CIC (previously known as the European Molecular Genetics Quality Network) laboratory guidelines summarizes recent clinically relevant advances and provides an update on the results of the external quality assessment program jointly offered by both organizations. A basic multiplex PCR reaction followed by a deletion extension analysis remains the gold-standard methodology to detect and correctly interpret AZF deletions. Recent data have led to an update of the sY84 reverse primer sequence, as well as to a refinement of what were previously considered as interchangeable border markers for AZFa and AZFb deletion breakpoints. More specifically, sY83 and sY143 are no longer recommended for the deletion extension analysis, leaving sY1064 and sY1192, respectively, as first-choice markers. Despite the transition, currently underway in several countries, toward a diagnosis based on certified kits, it should be noted that many of these commercial products are not recommended due to an unnecessarily high number of tested markers, and none of those currently available are, to the best of our knowledge, in accordance with the new first-choice markers for the deletion extension analysis. The gr/gr partial AZFc deletion remains a population-specific risk factor for impaired sperm production and a predisposing factor for testicular germ cell tumors. Testing for this deletion type is, as before, left at the discretion of the diagnostic labs and referring clinicians. Annual participation in an external quality control program is strongly encouraged, as the 22-year experience of the EMQN/EAA scheme clearly demonstrates a steep decline in diagnostic errors and an improvement in reporting practice.
摘要：
测试Y染色体的无精子症因子（AZF）缺失是无精子症和严重少精子症男性诊断检查的关键组成部分。2013年欧洲男性科学院（EAA）和EMQNCIC（以前称为欧洲分子遗传学质量网络）实验室指南的修订版总结了最近的临床相关进展，并提供了两个组织联合提供的外部质量评估计划的最新结果。基本的多重PCR反应以及缺失延伸分析仍然是检测和正确解释AZF缺失的金标准方法。最近的数据导致了sY84引物序列的更新，以及对先前被认为是AZFa和AZFb缺失断点的可互换边界标记的改进。更具体地说,sY83和sY143不再推荐用于删除扩展分析，分别留下sY1064和sY1192，作为首选标记。尽管转型,目前在几个国家进行，基于认证试剂盒的诊断，应该指出的是，由于测试标记的数量过多，因此不推荐使用许多这些商业产品，这些目前都没有，据我们所知,根据新的首选标记进行缺失扩展分析。gr/gr部分AZFc缺失仍然是精子产生受损的群体特异性风险因素和睾丸生殖细胞肿瘤的诱发因素。此删除类型的测试是，和以前一样,由诊断实验室和转诊临床医生自行决定。强烈鼓励每年参与外部质量控制计划，EMQN/EAA计划22年的经验清楚地表明，诊断错误急剧下降，报告实践有所改善。
