Y染色体无精子症因子c区缺失男性不育患者同步显微取精术后行卵胞浆内单精子显微注射的临床结局

目的: 评价同步显微镜下睾丸切开取精术结合卵胞浆内单精子显微注射(intracytoplasmic sperm injection，ICSI)对Y染色体长臂上无精子症因子c区(azoospermia factor c region，AZFc)缺失所致男性不育患者的临床治疗效果，指导AZFc缺失男性不育患者的临床治疗。方法: 回顾性分析了自2015年1月到2019年12月因AZFc缺失所致男性不育患者在北京大学第三医院生殖医学中心行显微取精术的临床资料，追踪随访了同步显微取精手术中成功获取精子的患者使用睾丸精子行ICSI助孕的临床结局，比较了首次同步显微取精术与第二次同步显微取精术患者的临床结局，包括受精率、临床妊娠率、流产率和活产率等。结果: 共有195例AZFc缺失的男性不育患者接受显微取精术，其中14例为隐匿性精子症，术中均成功发现精子，精子获得率为100%(14/14)；181例为非梗阻性无精子症(non-obstructive aoospermia，NOA)，122例成功发现精子，精子获得率为67.4%(122/181)，余59例NOA患者在显微取精术中未发现精子，占32.6%(59/181)。我们随访了手术成功发现精子的患者中，选择夫妻双方同步取精、取卵且不行胚胎植入前遗传学检测患者的临床结局，纳入研究的99例患者共进行了118人次显微取精术和120个ICSI周期助孕，最终有38例患者成功活产，累积活产率38.4%(38/99)，总共分娩出22个健康男婴和22个健康女婴，其中在首次和二次同步显微取精术的新鲜精子-ICSI周期中，优质胚胎率、新鲜周期临床妊娠率和取卵周期活产率分别为47.7% vs. 50.4%、40.5% vs. 50.0%、28.3% vs. 41.2%，第二次同步手术组略高于首次同步手术组，但组间差异没有统计学意义。结论: 对AZFc缺失导致的男性不育患者，有较大的概率通过显微取精在睾丸中成功获取精子，并结合ICSI生育自己的遗传学后代，对首次同步ICSI周期未成功的患者，有机会通过再次手术取精和ICSI成功孕育后代。

Analysis of clinical outcome of synchronous micro-dissection testicular sperm extraction and intracytoplasmic sperm injection in male infertility with Y chromosome azoospermia factor c region deletion

Objective: To analyze the clinical treatment results of male infertility caused by Y chromosome azoospermia factor c region(AZFc) deletion after synchronous micro-dissection testicular sperm extraction (micro-TESE) and intracytoplasmic sperm injection (ICSI) and to guide the treatment of infer- tile patients caused by AZFc deletion. Methods: The clinical data of infertile patients with AZFc deletion who underwent synchronous micro-TESE in Peking University Third Hospitalfrom January 2015 to December 2019 were retrospectively analyzed. The clinical outcomes of ICSI in the patients who successfully obtained sperm were followed up and we compared the outcomes between the first and second synchronous procedures, including fertilization rate, high-quality embryo rate, clinical pregnancy rate, abortion rate and live birth rate. Results: A total of 195 male infertile patients with AZFc deletion underwent micro-TESE. Fourteen patients were cryptozoospermia and their sperms were successfully obtained in all of them during the operation, and the sperm retrieval rate (SRR) was 100%(14/14). The remaining 181 cases were non obstructive azoospermia, and 122 cases were successfully found the sperm, the SRR was 67.4%(122/181). The remaining 59 patients with NOA could not found mature sperm during micro-TESE, accounting for 32.6% (59/181). We followed up the clinical treatment outcomes of the patients with successful sperm retrieved by synchronous micro-TESE and 99 patients were enrolled in the study. A total of 118 micro-TESE procedures and 120 ICSI cycles were carried out. Finally 38 couples successfully gave birth to 22 male and 22 female healthy infants, with a cumulative live birth rate of 38.4% (38/99). In the fresh-sperm ICSI cycle of the first and second synchronous operation procedures, the high-quality embryo rate, clinical pregnancy rate of the fresh embryo transfer cycle and live birth rate of the oocyte retrieve cycle were 47.7% vs. 50.4%, 40.5% vs. 50.0%, and 28.3% vs. 41.2%, respectively. The second operation group was slightly higher than that of the first synchronous operation group, but there was no significant difference between the groups. Conclusion: Male infertility patients caused by AZFc deletion have a high probability of successfully obtaining sperm in testis through micro-TESE for ICSI and give birth to their own offspring with their own biological characteristics. For patients who failed in the first synchronous procedure, they still have the opportunity to successfully conceive offspring through reoperation and ICSI.