15例47,XYY患者病例分析并文献复习  

Analysis of 47,XYY syndrome and literature review(report of 15 cases)

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

机构地区：[1]湖北医药学院附属人民医院男科,湖北十堰442000

出　　处：《中国优生与遗传杂志》2016年第6期49-51,88,共4页Chinese Journal of Birth Health & Heredity

摘　　要：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。Objectives：To probe into the reason of abnormal chromosome number and karyotype,the natural outcome in assisted reproductive technology（ART）and genetic trait in offspring. Methods：We summarized the clinical histories,semen parameters,pregnancy outcomes,genetic trait in offsprings and the spouse＇s characteristics in 15 cases of 47,XYY syndrome. Results：There are 5 cases of simple women′s reason to lead to infertility,which including oviductal obstruction and ovarian insufficiency. There are 4 cases azoospermia including two orchiatrophy patients which can＇t find sperm in testicular sperm extraction（TESE）,but we can find sperm though percutaneous epididymal aspiration（PESA）in another two cases and be born a male baby by Intracytoplasmic sperm Injection（ICSI）. There are one cryptozoospermia patient,one anejaculation case,one severe oligospermia and asthenozoospermia case,one teratozoospermia case,one mild oligospermia and asthenozoospermia case,one mild asthenozoospermia case,which all receive treatment and accept ICSI. The sexual orientation case whose sperm semen is normal accept intrauterine insemination（IUI）. The three normal semen patients accept in vitro fertilization embryo transplantation（IVF-ET）and ICSI. There are four boys and three girls in 15 cases,and are normal the chromosome numbers and karyotypes.Conclusion：Maybe the aneuploidy sperm selectively remove the extra chromosome Y in the fertilization or before the embryogenesis,so that the risk of abnormal offsprings is very low. We recommend that the infertility patients should accept IVFET and ICSI rather than preimplantation genetic diagnosis（PGD）.

关 键 词：47XYY综合征 染色体 不育症 辅助生殖技术 

分 类 号：R714.8[医药卫生—妇产科学]