45,X/47,XXX嵌合体1例并文献复习  

A single case report of 45,X/47,XXX mosaicism and literature review

作　　者：何城[1] 青鑫 蔡燕[1,2,3] 马强 宋琪玲[1,2,3] 陈小芬 刘青松[1,2,3] HE Cheng;QING Xin;CAI Yan;MA Qiang;SONG Qiling;CHEN Xiaofen;LIU Qingsong(Department of Clinical Laboratory,Affiliated Hospital of North Sichuan Medical College,Nanchong,Sichuan 637000,China;Clinical Laboratory Medicine,North Sichuan Medical College,Nanchong,Sichuan 637000,China;Translational Medicine Research Center,North Sichuan Medical College,Nanchong,Sichuan 637000,China;Department of Obstetrics and Gynecology,Affiliated Hospital of North Sichuan Medical College,Nanchong,Sichuan 637000,China)

机构地区：[1]川北医学院附属医院检验科,四川南充637000 [2]川北医学院医学检验系,四川南充637000 [3]川北医学院转化医学研究中心,四川南充637000 [4]川北医学院附属医院妇产科,四川南充637000

出　　处：《检验医学与临床》2018年第8期1064-1066,共3页Laboratory Medicine and Clinic

基　　金：四川省教育厅重点项目(16ZA0233);川北医学院博士启动基金资助项目(CBY14-QD-08)

摘　　要：目的总结45,X/47,XXX嵌合型特纳综合征(mTS)的诊断和治疗经验,提高对该病的认识。方法报道1例45,X/47,XXX mTS临床表现,对相关文献进行复习。结果患者无颈蹼和肘外翻,心肺查体未见异常。外阴幼女型,Tanner分期:无阴毛(PH1)、双侧乳房发育欠佳(B3)。盆腔彩超显示子宫大小正常(73mm×45mm×36mm),双侧卵巢稍小,左卵巢为16mm×10mm,右卵巢为25mm×16mm,未见确切卵泡回声。实验室检查:黄体生成素2.89U/L(1.00～11.40U/L),卵泡雌激素25.09U/L(1.70～7.70U/L),雌二醇<10.0ng/L(22.3～341.0ng/L)。分析100个中期分裂象,其中32个为45,X细胞系,68个为47,XXX细胞系。文献复习,45,X/47,XXX mTS的临床症状较标准的特纳综合征轻并受嵌合率的影响而呈现异质性,但身材矮小仍是其普遍特征且不受嵌合率的影响。结论身材矮小可作为45,X/47,XXX mTS初筛的临床指标,有利于该病的早期诊疗。Objective To improve the recognition and diagnosis level of 45,X/47,XXX mosaicism Turner syndrome(mTS).Methods The clinical manifestation of one 45,X/47,XXX mTS case was described,and the related literatures were reviewed.Results She showed no signs of Turner syndrome,such as webbed neck and cubitus valgus,and no abmormalities found in heart and lung examination.A physical examination revealed she has Tanner stageⅢfor breast development and Tanner stageⅠpubic hair.Pelvic ultrasound showed the uterus was"regular-size"(73 mm×45 mm×36 mm),while the bilateral ovaries were slightly smaller(left ovary 16 mm×10 mm,right ovary 25 mm×16 mm).The laboratory examination result:luteinizing hormone(LH)2.89 IU/L(1.00-11.40 IU/L),follicular estrogen(FSH)25.09 IU/L(1.70-7.70 IU/L),estradiol(E2)<10.0 ng/L(22.3-341.0 ng/L).Chromosome analysis showed thirty-two cells had 45 chromosomes with a single X chromosome(45,X),and sixty-eight cells had 47 chromosomes with three X chromosomes(47,XXX).No karyotypically normal cells were identified in the specimen.The literature review shows that 45,X/47,XXX mTS have milder phenotypes,and the outcome for any individual is unpredictable,but short stature is still a general feature and the 45,X line determined the height disregarding the ratio of mosaicism.Conclusion Short stature might be a preliminary screening that is conducive to the early diagnosis and treatment of 45,X/47,XXX mTS.

关 键 词：特纳综合征 嵌合体 单体型 三体型 

分 类 号：R711.[医药卫生—妇产科学]