15例47,XYY综合征患者的医学助孕研究及相关文献复习  

ART outcomes in fifteen patients with 47,XYY syndrome and literature review

作　　者：欧阳海[1] 谢胜[1] 康照鹏[1] 王万荣[1] 谢子平[1] 李韬[1] 王金国[1] 谭艳[1] 

机构地区：[1]湖北医药学院附属人民医院男科,十堰442000

出　　处：《生殖医学杂志》2016年第8期701-706,共6页Journal of Reproductive Medicine

摘　　要：目的总结47,XYY综合征患者的临床资料、辅助生殖结局及其子代遗传情况。方法回顾性分析从9 725个辅助生殖周期中筛查出的15例47,XYY综合征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4例无精子症(除1例配偶有甲亢病史外,其余3例配偶妇检无异常),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例极重度少弱精子症,1例畸形精子症(配偶输卵管梗阻),1例轻度少弱精子症(配偶输卵管积水),2例轻度弱精子症(1例配偶多囊卵巢综合征,另1例配偶妇检无异常),治疗后行ICSI处理。4例精液正常的患者中1例考虑性取向有问题(配偶妇检无异常)行宫腔内人工授精(IUI)处理,其余3例(2例配偶有输卵管梗阻和卵巢功能不全,1例配偶妇检无异常)行IVF-ET和ICSI处理。15对夫妇共分娩7例活婴,4男3女,除1例失访外,其余核型均正常。结论 47,XYY综合征患者在接受辅助生殖助孕治疗时,其后代出现染色体异常的风险极低,可能是因为精子在受精或者胚胎形成之前会选择性地去除额外的Y染色体。Objective： To summarize the clinical data,pregnancy outcomes of assisted reproductive technology（ART）and genetic traits of offspring in 15 patients with 47,XYY syndrome.Methods： The clinical histories,semen parameters,pregnancy outcomes,genetic traits of offspring and the spouse＇s characteristics in 15 patients with 47,XYY syndrome were retrospectively summarized.Results：In 15 patients with 47,XYY syndrome,4patients were azoospermia（the remaining three spouses were normal in gynecological examination except one spouse had a history of hyperthyroidism）,in whom two patients were performed testicular aspiration and no sperm found;another two patients were performed epididymis aspiration and ICSI was conducted with spermatozoa obtained.One patient suffered cryptozoospermia,one anejaculation,one severe oligoasthenozoospermia,one teratozoospermia（spouse with tubal obstruction）,one mild oligoasthenozoospermia（spouse with hydrosalpinx）,and all of them were conducted with ICSI after treatment.Two patients with mild asthenospermia（one spouse with polycystic ovary syndrome and another normal）were performed ICSI.Among the four patients with normal semen,one patient had a problem of sexual orientation（his spouse was normal in gynecological examination）accepted intrauterine insemination（IUI）and another three patients（two spouses with oviductalobstruction and one ovarian dysfunction）were accepted IVF-ET or ICSI.A total of 15 couples delivered 7live births,four male and three female,the rest were normal karyotype except one patient was lost to follow-up.Conclusions： The risk of offspring with abnormal karyotype is very low when the 47,XYY syndrome patients accept ART,probably because sperm can be selectively removed a additional Y chromosome prior to sperm fertilization or embryo formation.

关 键 词：47 XYY综合征 辅助生殖技术 

分 类 号：R714.25[医药卫生—妇产科学]