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目的探讨47,XYY患者染色体异常的原因、辅助生殖结局及其子代遗传情况。方法总结从9725个辅助生殖周期中筛查的15例47,XYY患者的一般临床特征、精液参数、妊娠结局、子代情况、子代核型及配偶情况。结果 15例患者中有5例是单纯女方因素所致不育,表现为输卵管梗阻或卵巢功能不全。男方因素中,有4例无精子症,其中2例睾丸穿刺未见精子,其他2例附睾穿刺可见精子,行ICSI处理。1例隐匿性精子症,1例不射精症,1例极重度少、弱精症,1例畸形精子症,1例轻度少、弱精子症,2例轻度弱精子症,治疗后行ICSI处理。4例精液正常患者中1例考虑性取向有问题,行IUI处理,其余3例行IVF-ET和ICSI处理。15例夫妇共分娩活婴7人,4男3女,1例失访外,其余核型均正常。结论非整倍体精子在受精或者胚胎形成之前选择性地除去了额外的Y染色体,其后代出现异常的风险极低,IVF-ET和ICSI是不育患者接受辅助生殖时首选的技术方式,而PGD不推荐使用。
Objective To investigate the causes of chromosomal abnormalities in 47 patients with XYY, and to assist in the reproductive outcome and the inheritance of their offspring. Methods The clinical features, semen parameters, pregnancy outcome, offspring status, offspring karyotype and spouse status of 15 cases of 47 patients with XYY who were screened from 9725 assisted reproductive cycles were summarized. Results Of the 15 patients, 5 were infertility caused by simple female factors, which showed tubal obstruction or ovarian insufficiency. Male factors, 4 cases no spermosis, including 2 cases of testicular puncture sperm, the other 2 cases of epididymal sperm can be seen, the line ICSI treatment. 1 case of occult sperm disease, 1 case of non-ejaculation, 1 case of extremely less severe, asthenospermia, 1 case of abnormal sperm disease, 1 case of mild oligospermia, 2 cases of mild asthenospermia, after treatment ICSI processing. One of the four patients with normal sperm considered a problematic orientation with IUI and the remaining three with IVF-ET and ICSI. 15 cases of couples were delivered a total of 7 live births, 4 males and 3 females, 1 lost, the rest of the karyotype were normal. Conclusions Aneuploidy sperm selectively remove extra Y chromosome prior to fertilization or embryogenesis and have very low risk of abnormalities in their offspring. IVF-ET and ICSI are the preferred technique for infertile patients receiving assisted reproductive PGD is not recommended.