Turner综合征伴快进展型青春期患儿1例的临床与遗传学分析及文献回顾  

Clinical and genetic analysis of a case of Turner syndrome with rapidly progressive puberty and a Citerture review

作　　者：林小梅 戴勇 肖智辉 汤冬娥 叶梅 李博 Lin Xiaomei;Dai Yong;Xiao Zhihui;Tang Donge;Ye Mei;Li Bo(Department of Pediatrics,Shenzhen People's Hospital(the Second Clinical Medical College of Jinan University,the First Affiliated Hospital of Southern University of Science and Technology),Shenzhen,Guangdong 518020,China;Department of Clinical Medical Research Center,Shenzhen People's Hospital(the Second Clinical Medical College of Jinan University,the First Affiliated Hospital of Southern University of Science and Technology),Shenzhen,Guangdong 518020,China)

机构地区：[1]深圳市人民医院(暨南大学第二临床医学院,南方科技大学第一附属医院)儿科,深圳518020 [2]深圳市人民医院(暨南大学第二临床医学院,南方科技大学第一附属医院)临床医学研究中心,深圳518020

出　　处：《中华医学遗传学杂志》2023年第8期1021-1027,共7页Chinese Journal of Medical Genetics

摘　　要：目的探讨1例Turner综合征(TS)伴快进展型青春期患儿的临床特征与遗传学病因。方法选取2022年1月19日于深圳市人民医院儿科内分泌专病门诊就诊的1例TS伴快进展型青春期患儿为研究对象。收集患儿相关临床资料,采集患儿外周静脉血样,应用染色体微阵列分析(CMA)与多重连接探针扩增(MLPA)技术,对患儿染色体异常情况进行检测。以"Turner综合征""快进展型青春期"及"Turner syndrome""rapidly progressive puberty"为中、英文关键词,在CNKI、万方数据知识服务平台、博库、CBMdisc、PubMed等数据库中,检索TS伴快进展型青春期患儿相关文献,检索年限设定为2021年11月9日至2022年5月31日,总结该病患儿临床特征及染色体核型。结果患儿为13岁2月龄女性,患儿9岁时乳房开始发育,10岁时身高增长缓慢,渐矮小,11岁时月经初潮,13岁时于外院进行染色体核型分析提示为46,X,i(X)(q10)。患儿入院时,身高为143.5 cm(<P_(3)),面部、右锁骨处皮肤共有6~8颗黑痣,双侧通贯掌,未见鼻梁塌陷、颈蹼、肘外翻、盾状胸、乳距增宽等特殊躯体特征,月经来潮2年2个月,骨龄达15.6岁。CMA检测结果显示,患儿染色体Xp22.33p11.1区域存在58.06Mb缺失片段,Xp11.1q28区域存在94.49Mb重复片段。MLPA检测结果显示,患儿X染色体存在短臂单体与长臂三体结构异常。在CNKI、万方数据知识服务平台、博库、CBMdiSC、PubMed等数据库中共计检索出13篇TS伴快进展型青春期患儿相关文献,涉及14例TS伴快进展型青春期患儿,加上该患儿,共计纳入15例患儿的分析结果显示,患儿主要临床表现为身材矮小与生长发育迟缓,染色体核型以嵌合体为主。结论TS伴快进展型青春期患儿主要临床表现为身材矮小和生长发育迟缓,Xp22.33p11.1区域缺失与Xp11.1q28区域重复可能是本研究患儿的遗传学病因,为该病患儿临床诊断与遗传咨询提供参考依据。Objective To investigate the clinical features and genetic etiology of a case of Turner syndrome(TS)with rapidly progressive puberty.Methods A child who had presented at the Pediatric Endocrinology Clinic of the Shenzhen People′s Hospital on January 19,2022 was selected as the study subject.Clinical data of the child were collected.Peripheral blood sample of the child was subjected to chromosomal microarray analysis(CMA)and multiples ligation-dependent probe amplification(MLPA).Previous studies related to TS with rapidly progressive puberty were retrieved from the CNKI,Wanfang Data Knowledge Service Platform,Boku,CBMdisc and PubMed databases with Turner syndrome and rapidly progressive puberty as the keywords.The duration for literature retrieval was set from November 9,2021 to May 31,2022.The clinical characteristics and karyotypes of the children were summarized.Results The child was a 13-year-and-2-month-old female.She was found to have breast development at 9,short stature at 10,and menarche at 11.At 13,she was found to have a 46,X,i(X)(q10)karyotype.At the time of admission,she had a height of 143.5 cm(<P3),with 6~8 nevi over her face and right clavicle.She also had bilateral simian creases but no saddle nasal bridge,neck webbing,cubitus valgus,shield chest or widened breast distance.She had menstruated for over 2 years,and her bone age has reached 15.6 years.CMA revealed that she had a 58.06 Mb deletion in the Xp22.33p11.1 region,and a 94.49 Mb duplication in the Xp11.1q28 region.MLPA has confirmed monosomy Xp and trisomy Xq.A total of 13 reports were retrieved from the CNKI,Wanfang Data Knowledge Service Platform,Boku,CBMdisc and PubMed databases,which had included 14 similar cases.Analysis of the 15 children suggested that their main clinical manifestations have included short stature and growth retardation,and their chromosomal karyotypes were mainly mosaicisms.Conclusion The main clinical manifestations of TS with rapidly progressive puberty are short stature and growth retardation.Deletion in the Xp2

关 键 词：特纳综合征 青春期 早熟 X染色体结构异常 发育障碍 儿童 

分 类 号：R725[医药卫生—儿科]