Turner综合征患儿常见染色体核型的分布及其诊断年龄与身高标准差分值的关系  

Distribution of common chromosomal karyotypes in patients with Turner syndrome and correlation between the mean age and height standard deviation scores on diagnosis

作　　者：王红[1] 金煜炜[1] 陈晓波[2] 曹延延[1] 白晋丽[1] 瞿宇晋[1] 宋昉[1] 

机构地区：[1]首都儿科研究所遗传研究室,100020 [2]首都儿科研究所附属儿童医院内分泌科

出　　处：《中华实用儿科临床杂志》2015年第24期1894-1897,共4页Chinese Journal of Applied Clinical Pediatrics

摘　　要：目的 分析Turner综合征（TS）患儿的常见染色体核型的分布,探讨不同核型之间患儿的诊断年龄与身高标准差分值（HSDS）的关系.方法 回顾性分析273例经染色体核型确诊的TS患儿（≤18.0岁）资料,包括诊断年龄和HSDS等,采用SPSS 18.0软件进行统计分析,应用t检验进行均数之间的比较、Pearson相关分析进行相关性分析.结果 1.TS中有4种常见染色体核型：45,X（87/273例,31.9％）、46,X,i（Xq）（43/273例,15.7％）、45,X/46,X,i（Xq）（36/273例,13.2％）和45,X/46,XX（23/273例,8.4％）.进入青春期的TS患儿均存在青春期发育延迟;此外,45,X核型还存在3例智力障碍和2例脏器畸形.2.患儿平均诊断年龄最大的是45,X/46,X,i（Xq）组（12.56岁）,最小的是45,X/46,XX组（9.70岁）,二者差异有统计学意义（t=3.019,P=0.004）.与健康女童身高偏离最大的是46,X,i（Xq）组（HSDS=-4.04）,偏离最小的是45,X/46,XX组（HSDS=-3.16）,2组差异有统计学意义（t=-2.95,P=0.004）.3.TS患儿75.7％以上在身高偏离3个标准差（HSDS＜-4.00--3.01）以上才获得诊断,平均年龄（12.1岁）比偏离2个标准差的晚3.24岁.4.除45,X/46,X,i（Xq）组,其余3种常见核型组[45,X、46,X,i（Xq）和45,X/46,xx]的诊断年龄与HSDS均呈显著负相关（r=-0.551、-0.560、-0.622,P均＜0.01）.结论 1.常见4种核型的构成比与欧美国家存在一定差异.2.45,X比其他常见核型有更严重的临床表现.3.以HSDS＜-2.00作为不明原因矮小女童染色体筛查的指标可使TS患儿的平均诊断年龄至少提前3.0岁,有助于患儿的早期诊断.Objective To analyze the distribution of common chromosomal karyotypes of patients with Turner syndrome （TS）, and to explore the correlation between the age and height standard deviation scores （HSDS） on diagnosis.Methods Retrospective investigation was performed for the data of age and HSDS on diagnosis in 273 TS girls（≤ 18.0 years old）diagnosed by chromosomal karyotypes.The main statistical methods were analyzed with t-test and Pearson correlation test by using the SPSS 18.0 statistical software.Results （1） There were 4 kinds of common chromosomal karyotypes in the TS ：45, X （87/273 cases,31.9%）,46, X, i （Xq） （43/273 cases, 15.7%） ,45, X/46, X, i （Xq） （36/273 cases, 13.2%） and 45, X/46, XX （23/273 cases, 8.4%）, respectively, the adolescent TS all had delayed puberty.For the cases with 45, X karyotypes ,3 cases presented mental retardation and 2 cases with organs deformity.（2）The patients with 45 ,X/46,X,i（Xq） karyotypes or with 46,X,i（Xq） karyotypes had the maximum（12.56 age） or the minimum（9.70 age） mean age on diagnosis, respectively, there was a significant difference between 2 groups （t =3.019, P =0.004）.The maximum deviation from normal height was found in the patients with karyotypes of 46, X,i （Xq） （HSDS =-4.04）, and the minimum deviation was in the patients with karyotypes of 45,X/46, XX （HSDS =-3.16）, and there was a significant difference between 2 groups （t =-2.95, P =0.004）.（3） More than 75.7% of TS patients was diagnosed when their heights deviated above 3 SD,and their mean age on diagnosis was 12.10 age,which was 3 years later than those patients within 2 SD.（4） There was a significant negative correlation between the age and HSDS on diagnosis in the groups of common chromosomal karyotypes[45,X、46,X,i（Xq） and 45,X/46,XX] （r =-0.551,-0.560,-0.622,all P 〈 0.01）, except for the group with the 45, X/46, X, i （Xq）.Conclusions （1） In this study, the consti-tuent ratios of these 4 common chromo

关 键 词：TURNER综合征 染色体核型 诊断年龄 身高标准差分值 早期诊断 

分 类 号：R725.9[医药卫生—儿科]