48,XXYY综合征4例报道  

48,XXYY syndrome:A report of four cases

作　　者：田琳琳 刘海娟 周亚莉 陈砼 赵丽娟 解磊 高选 TIAN Lin-lin;LIU Hai-juan;ZHOU Ya-li;CHEN Tong;ZHAO Li-juan;XIE Lei;GAO Xuan(National Research Center for Assisted Reproductive Technology and Reproductive Genetics/Key Laboratory of the Ministry of Education for Reproductive Endocrinology/Center for Reproductive Medicine,Shandong University,Jinan,Shandong 250001,China;Department of Microbiology,School of Basic Medical Sciences,Guilin Medical College,Guilin,Guangxi 541004,China;Department of General Surgery,Shanghai Children,Hospital,Shanghai Jiao Tong University,Shanghai 200062,China)

机构地区：[1]山东大学附属生殖医院国家辅助生殖与优生工程技术研究中心/生殖内分泌教育部重点实验室,山东济南250001 [2]桂林医学院基础医学院微生物学教研室,广西桂林541004 [3]上海交通大学附属儿童医院普外科,上海200062

出　　处：《中华男科学杂志》2020年第2期149-153,共5页National Journal of Andrology

摘　　要：目的:探讨48,XXYY综合征患者的临床特点和助孕结局,提高对此类疾病的认识. 方法:回顾性分析2011-2018年确诊的4例48,XXYY综合征患者的一般资料、临床表现、实验室检查、影像学特点、治疗及助孕结局,并进行文献复习. 结果:4例48,XXYY综合征患者文化程度偏低,睾丸质地软、体积偏小,FSH与LH水平高,T水平低.2例患者射精功能障碍,呈无精液症表现;另外2例患者射精功能正常,精液常规检查均未见精子,精浆生化检查示果糖定量与中性α葡糖苷酶定量均正常.4例患者均行供精辅助生殖技术治疗,有3例获足月婴儿. 结论:48,XXYY综合征患者常合并高促性腺激素性性腺功能减退,呈无精液症或非梗阻性无精子症表现,可通过供精辅助生殖技术治疗获得非生物学子代.Objective:To explore the clinical characteristics and prognosis of the 48,XXYY syndrome and gain a deeper insight into this condition.Methods:This retrospective study included 4 cases of 48,XXYY syndrome confirmed between 2011 and 2018.We analyzed the general information,clinical manifestations,laboratory results,imaging features and outcomes of assisted reproductive technology(ART)of the patients and reviewed the relevant literature.Results:The 4 patients with 48,XXYY syndrome were char acterized by low literacy,soft texture and small volume of the testis,high levels of FSH and LH,and low level of serum T.Two of them were diagnosed with ejaculatory dysfunction and aspermia,and the other 2 with normal ejaculatory function but azoospermia.Biochemical analysis of seminal plasma indicated normal quantifications of both fructose and neutral α glucosidase.ART with donor sperm was performed for all the 4 cases and 3 of them got full-term babies.Conclusion:The 48,XXYY syndrome is often complicated by hypergonadotropic hypogonadism,with the clinical manifestations of aspermia or non-obstructive azoospermia.ART with donor sperm can be employed to help the patient with 48,XXYY syndrome get their non-biological offspring.

关 键 词：48 XXYY综合征 性染色体异常 辅助生殖技术 

分 类 号：R596.1[医药卫生—内科学]