45,X/47,XXX嵌合型特纳综合征6例临床特征分析及文献回顾  

Analysis of clinical features in six 45,X/47,XXX mosaic Turner syndrome and review of literture

作　　者：宋宗先 孙文鑫[2] 徐灵敏 Song Zongxian;Sun Wenxin;Xu Lingmin(Department of Pediatrics,Ruijin Hospital North,Shanghai Jiaotong University School of Medicine,Shanghai 201801,China)

机构地区：[1]上海交通大学医学院附属瑞金医院北院儿内科,上海201801 [2]上海交通大学医学院附属瑞金医院儿内科,上海200025 [3]复旦大学附属中山医院青浦分院儿内科,上海201700

出　　处：《中国临床医生杂志》2020年第8期916-920,共5页Chinese Journal For Clinicians

基　　金：上海市科学技术委员会资助项目(16411972500)。

摘　　要：目的探讨45,X/47,XXX嵌合型特纳综合征患儿的临床特征。方法回顾性分析2009年2月至2019年2月上海交通大学医学院附属瑞金医院儿科就诊的6例45,X/47,XXX嵌合型特纳综合征患儿临床资料,包括染色体核型嵌合比例、身高、性腺发育水平等相关数据,并结合文献回顾探讨其临床诊疗特征。结果①6例患儿均有轻度的特纳体征,5例初诊时均有不同程度的矮小,其中2例后期随访身高达到正常范围(共3例身高达正常范围),2例使用重组人生长激素治疗的患儿身高标准差分值有所提高,但并未达到正常范围。②5例16岁以上患儿中有3例自发初潮(其中1例在初潮2年后月经周期延长),另外2例无初潮患儿应用性激素替代治疗。③文献回顾中有29例45,X/47,XXX嵌合型特纳综合征患儿,矮小(18/29)为其主要体征,自发初潮比例较高达16/21,部分成年患儿可以自然受孕(5/11),但有4例发生卵巢早衰。结论45,X/47,XXX嵌合型特纳患儿临床表现仍以矮小和性腺发育不良为主,症状相对轻微,但需防治卵巢早衰;外周血淋巴细胞核型分析嵌合细胞比例与其临床症状严重程度无明显规律性。Objective To explore the clinical features of Turner syndrome with 45,X/47,XXX mosaicism karyotype.Method①The clinical data(including the cell-lines of monosomy and trisomy,the stature,gonads development)of six 45,X/47,XXX mosaic TS cases treated in the Department of Pediatrics of Ruijin Hospital of Shanghai Jiaotong University School of Medicine were retrospectively analyzed.And the related literatures were reviewed.Result All the six patients showed milder TS phenotypes.②Five patients with short stature when first diagnosed,two of them were reached the normal height in the follow-up study(Three patients got normal height).Two patients received the treatment of human recombinant growth hormone,height SDS were increased but not satisfactory.Three of the five patients older than 16 years had a spontaneous menarche(amenorrhea occurred in one girl after two years of spontaneous menarche).Two patients without spontaneous puberty had to receive sex hormone replace treatment.③Short stature(18/29)was the primary clinical features in the 29 cases have been reported,the occurrence of spontaneous menarche was 16/21,some adult patients became spontaneous pregnancy(5/11),but premature ovarian insufficiency occurred in 4 patients.Conclusions Short stature and gonadal dysgenesis are the primary clinical features of 45 X,/47,XXX mosaic TS,but tend to have milder phenotypes.POI must be considered.The relationship between the proportions of chromosomally different cell lines(test from peripheral blood lymphocytes)and the phenotype is ambiguous.

关 键 词：特纳综合征 45 X/47 XXX嵌合型 临床特征 

分 类 号：R596.1[医药卫生—内科学]