二例48,XXYY综合征患者的临床特征和助孕结局

Clinical features and pregnancy outcome of 2 cases with 48,XXYY syndrome

目的回顾48,XXYY综合征患者的临床特征,探讨辅助生殖技术对这一类患者生育的帮助,并进一步提高对此类疾病的认识。方法回顾性分析2015-2018年确诊的2例48,XXYY综合征患者的临床信息、影像学特点、实验室检查结果和助孕结局,并进行文献复习。结果2例男性不育患者,核型分析均提示48,XXYY。患者血清促卵泡激素(FSH)和黄体生成素(LH)水平均升高,雌二醇(E2)水平均降低。患者文化程度偏低,睾丸体积偏小。患者射精功能正常,精液常规检测离心均未见精子;精浆生化检查均显示正常。2例患者先后通过供精辅助生殖技术获得健康婴儿。结论48,XXYY综合征患者有典型的非梗阻性无精症表现,常伴随高促性腺激素性性腺功能减退,可通过人类辅助生殖技术治疗获得后代。

Objective:To review the clinical characteristics of the patients with 48,XXYY syndrome,and explore the benefits of assisted reproductive technology for such patients,and further increase awareness of this disease.Methods:To analyze the clinical information,imaging features,laboratory study results,and fertility outcomes retrospectively,and review the literatures.Results:Two male patients with infertile,revealed with abnormal karyotype of 48,XXYY.Detection of endocrine hormone indicated rise in serum follicle stimulating hormone(FSH)and luteinizing hormone(LH),but decline in estradiol(E2).The culture degree of the patients were low,accompanied with microtestis.Ejaculation of the patients were normal.Rortine semen analysis did not find spermatoblast.No abnormality in biochemical tests of seminal plasma were found.The two patients had successfully carried out the process of giving birth to healthy babies using assisted reproductive technology.Conclusions:The 48,XXYY syndrome patients had classic manifestations of nonobstructive asthenospermia,usually accompanied with hypergonadotropic hypogonadism,which can have children using assisted reproductive technology.