Y染色体AZFc区缺失患者的治疗结局分析

目的：探讨Y染色体无精子症因素（azoospermia factor，AZF）c区缺失患者治疗方案的选择。方法： 对既往183例在北京大学第三医院诊治的Y染色体AZFc区缺失患者的资料进行回顾性分析，整理诊疗过程及结局，找出AZFc区缺失患者精液情况的特点。结果： 183例AZFc区缺失的患者中105例（57.4%，105/183）能够自行射出精子，其中103例（98.1%，103/105）为重度或者严重少精子症，98例通过规律的药物治疗后有6例（6.1%，6/98）自然受孕，其余99例行胞浆内单精子显微注射（intracytoplasmic sperm injection，ICSI）患者中有68例（68.7%，68/99）成功受孕。183例AZFc区缺失患者中78例临床表现为无精子症，其中49例（62.8%，49/78）先行睾丸穿刺取精术（ testicular sperm aspiration，TESA），21例（26.9%，21/78）直接行显微取精术（micro-dissection testicular sperm extraction，micro-TESE）。行TESA的患者中，17例（34.7%，17/49）找到精子，32例（65.3%，32/49）未找到精子，包括12例（37.5%，12/32）放弃治疗及20例（62.5%，20/32）选择行micro-TESE患者。截至最后随访，41位选择micro-TESE的患者中已有19例（46.3%，19/41）完成手术，其中11例（57.9%，11/19）成功找到精子，包括TESA失败后行micro-TESE的患者（6例）中的4例（66.6%，4/6）。无精子症AZFc区缺失患者中已经有7例行ICSI，4例（57.1%，4/7）成功受孕。结论： AZFc区缺失的患者中有精子者大部分为重度或严重少精子症，长期的药物治疗效果不佳，应及时行ICSI治疗；无精子的患者通过TESA取到精子的概率稍低，TESA失败后行micro-TESE取精仍有一定的成功率，因此，在某些情况下直接选择micro-TESE可以减少患者的多次受创。

Outcome of treatment of Y chromosome AZFc microdeletion patients

Objective:To discuss the treatment options for patients with azoospermia factor (AZF)c microdeletion on Y chromosome.Methods:One hundred and eighty three patients,who were diagnosed as AZFc microdeletion on Y chromosome in Peking University Third Hospital,were recruited in our stu-dy.In order to get better treatment option for this kind of patients,we retrospectively analyzed their clinic data including the treatment process and pregnancy outcome and found out the characteristics of their se-men.Results:Among the 183 patients,sperms can be found in ejaculated semen in 105 patients (57.4%,105 /183).One hundred and three patients (98.1%,103 /105)were diagnosed as severe or extremely severe oligospermia.Regular medication was given to 98 patients,6 patients (6.1%,6 /98) of which got natural pregnancy.The other 99 patients who have sperms in their semen received intracyto-plasmic sperm injection (ICSI),68 patients (68.7%,68 /99)of which got pregnancy.Seventy eight patients were diagnosed as azoospermia among all the 183 patients.Forty nine patients received testicular sperm aspiration (TESA),and 21 patients choose to receive micro-TESE directly.Among the 49 patients with TESA,sperms were retrieved in 17 patients (34.7%,17 /49),and sperms were not retrieved in 32 patients (65.3%,32 /49),of which 12 patients (37.5%,12 /32)gave up treatment and 20 patients (62.5%,20 /32)choose micro-TESE.Among the 41 patients who choose to receive micro-TESE,ope-ration has been done on 19 patients,of which 11 patients (57.9%,11 /19)got sperms.Among the 11 patients,TESA has been done on 6 patients before micro-TESE,of which 4 patients (66.6%,4 /6)got sperms.ICSI has already been done on 7 azoospermia AZFc microdeletion patients who underwent micro-TESE,of which 4 patients (57.1%,4 /7)get pregnancy.Conclusion:AZFc microdeletion patients who had sperms were always diagnosed as severe or extremely severe oligospermia.ICSI was their first choice instead of drug therapy.For AZFc microdeletion patients who were diagnosed as azoospermia, TESA was one of their choices,however,the success rate is not high.Micro-TESE is still possible to get sperms even after the failure of TESA.Therefore,we may choose micro-TESE instead of TESA in some azoospermia patients in order to reduce surgical trauma on patients.