摘要目的:观察非嵌合型克氏综合征（Klinefelter syndrome，KS）夫妇接受冷冻复苏的睾丸显微取精（micro-dissection testicular sperm extraction，micro-TESE）获得的精子进行基于二代测序（next-generation sequencing，NGS）胚胎植入前遗传学检测（preimplantation genetic testing，PGT）的临床效果，探讨非嵌合型KS夫妇最合适的辅助生育助孕方式。方法:回顾性病例系列研究了2018年1月至2020年12月期间在上海交通大学医学院附属仁济医院生殖医学中心就诊的22对非嵌合型KS夫妇所完成的26个PGT周期的临床资料。在女方进行卵巢刺激前，所有非嵌合型KS患者都进行micro-TESE获得精子并冷冻保存。采用NGS进行胚胎检测。结果:总共对55枚胚胎进行了胚胎活检和PGT，其中33枚（60.0％）被检测为整倍体，10枚（18.2％）非整倍体和12枚（21.8％）嵌合体胚。同时，非整倍体和嵌合体胚胎均未涉及性染色体异常。最终14对夫妇获得整倍体胚胎并完成了冻融胚胎移植。目前已有11对夫妇获得临床妊娠，其中6对夫妇已经活产了7个健康的新生儿。结论:当非嵌合型KS男性通过micro-TESE获得精子后可以生育健康的后代。对获得的精子进行冷冻保存的策略有助于女方进行最合适的卵巢刺激。此外，非嵌合型KS男性后代性染色体异常的遗传风险极低。除了采用卵胞质内单精子显微注射（intracytoplasmic sperm injection，ICSI）联合PGT助孕之外，ICSI同样有效且更经济。ICSI应该作为一种助孕选择提供给该类夫妇，受孕后可以通过产前诊断明确胎儿核型。

abstractsObjective:To demonstrate the clinical outcomes of patients with non-mosaic Klinefelter's syndrome (KS) who underwent preimplantation genetic testing (PGT) with frozen-thawed testicular spermatozoa.Methods:A retrospective case series was performed in the Center for Reproductive Medicine, Renji Hospital, Shanghai Jiao Tong University School of Medicine from January, 2018 to December 2020. A total of 22 couples were included and 26 oocyte retrieval cycles were completed. Micro-dissection testicular sperm extraction (micro-TESE) was performed for sperm retrieval. Next-generation sequencing (NGS) was conducted for embryo analysis.Results:Euploidy was detected in 33 of 55 (60.0%) embryos. Meanwhile, the numbers of aneuploid and mosaic embryos detected were 10 (18.2%) and 12 (21.8%), respectively, regardless of the lack of sex chromosome abnormality. Finally, 14 couples with euploid embryos completed frozen-thawed embryo transfer (FET). Totally eleven couples had clinical pregnancies, and 6 of them already delivered 5 healthy babies with 1 monozygotic twin.Conclusion:For KS patients, when sperm can be obtained by micro-TESE, the cryopreservation strategy makes the ovarian stimulation procedure more favorable for female partners. The paternal genetic risk of sex chromosome abnormality to their offspring is extremely low in men with KS. Besides intracytoplasmic sperm injection (ICSI) combined with PGT, ICSI procedure is comparable effective but more economical for non-mosaic KS couples. ICSI should be offered as an option for such couples, but monitoring by prenatal genetic diagnosis is recommended.