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首页> 外文期刊>Fertility and Sterility: Official Journal of the American Fertility Society, Pacific Coast Fertility Society, and the Canadian Fertility and Andrology Society >A decade of experience emphasizes that testing for Y microdeletions is essential in American men with azoospermia and severe oligozoospermia.
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A decade of experience emphasizes that testing for Y microdeletions is essential in American men with azoospermia and severe oligozoospermia.

机译：十年的经验强调，对于无精子症和严重少精子症的美国男性，检测Y微缺失至关重要。

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OBJECTIVE: To evaluate the benefit of Y microdeletion testing. DESIGN: Retrospective analysis. SETTING: University-based male fertility clinic and genetics laboratory. PATIENT(S): A total of 1,591 men with sperm concentrations less than 5 million sperm/mL. INTERVENTION(S): Semen analysis, Y microdeletion testing, microdissection testicular sperm extraction (TESE). MAIN OUTCOME MEASURE(S): Sperm concentration, incidence and nature of Y microdeletions, microdissection TESE outcome. RESULT(S): We identified 149 microdeletions (9.4%). 10.4% of azoospermic men and 10.1% of men with sperm concentrations >0-1 million sperm/mL harbored microdeletions. Two-thirds of microdeletions in azoospermic men were AZFa, AZFb, AZFb+c, or complete Yq deletions. Virtually all microdeletions in oligozoospermic patients were AZFc deletions. Seven hundred eighteen patients underwent microdissection TESE, including 41 with microdeletions. Microdissection TESE failed in all patients with AZFa, AZFb, AZFb+c, and complete Yq deletions. Sperm were retrieved in 15/21 AZFc deleted patients (71.4%). The presence of an AZFc deletion was associated with increased likelihood of sperm retrieval when compared with the 48.8% retrieval rate in 385 idiopathically azoospermic men who consecutively underwent microdissection TESE at our institution during the study period. Clinical pregnancy was achieved in 10/15 azoospermic AZFc deleted patients for whom sperm were successfully retrieved. CONCLUSION(S): Of azoospermic and severely oligozoospermic American men, 10% harbor Y microdeletions that alter prognosis for surgical sperm retrieval and are vertically transmissible. Y microdeletion testing is essential for genetic and preoperative counseling in these patients.
机译：目的：评估Y微缺失检测的益处。设计：回顾性分析。地点：基于大学的男性生育诊所和遗传学实验室。患者：共有1,591名精子浓度低于500万精子/ mL的男性。干预：精液分析，Y微量缺失试验，显微解剖睾丸精子提取（TESE）。主要观察指标：精子浓度，Y微缺失的发生率和性质，显微解剖TESE结局。结果：我们鉴定出149个微缺失（9.4％）。精子浓度> 0-1百万精子/ mL的无精子症男性中有10.4％，精子浓度中男性中有10.1％具有微缺失。无精症男性微缺失的三分之二是AZFa，AZFb，AZFb + c或完整的Yq缺失。实际上，少精子症患者的所有微缺失都是AZFc缺失。 718例患者接受了显微解剖TESE，包括41例微缺失。在所有AZFa，AZFb，AZFb + c和完整Yq缺失的患者中，显微解剖TESE失败。在15/21例AZFc缺失的患者中检出精子（占71.4％）。与385名特发性无精子症患者在研究期间连续接受显微解剖TESE相比，AZFc缺失的存在与精子修​​复可能性增加有关。在成功去除精子的10/15无精子AZFc缺失患者中实现了临床妊娠。结论：在无精子症和严重少精子症的美国男性中，有10％的港口Y型微缺失改变了手术精子取回的预后并且可以垂直传播。 Y微缺失测试对于这些患者的遗传和术前咨询至关重要。

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