Turner综合征232例染色体核型、诊断年龄和身高分析

Analysis of chromosomal karyotypes, age and height on diagnosis of 232 patients with Turner syndrome

目的研究Turner综合征（Ts）的染色体核型、诊断年龄和身高的分布特点。方法对27年随机就诊的1015例身材矮小女童，经过染色体核型分析确定TS的诊断，回顾性统计分析玛患儿的染色体核型、诊断年龄和身高，采用SPSS11．0软件进行数据统计分析。结果1．确诊Ts患儿232例，诊断率为22．9％。2．共检测到26种异常染色体核型，以45，x和46，Xi（xq）最为常见，分别为75例（32．4％）和38例（16．4％）。其中有21种嵌合体核型，共111例（47．8％）。3．TS患儿诊断年龄为（10．90±4．55）岁，青春期是诊断高峰。〈2岁组15例（6．4％）、2-〈7岁组35例（15．1％）、7-〈12岁组93例（40．1％）、12-〈18岁组89例（38．4％）。4．TS患儿身高标准差得分（z分值）均值为-3．60±1．20，Z分值与诊断年龄之间存在明显的负线性相关（r=-00．613，P〈0．000）。5．在年龄≥13岁的74例TS患儿中64例（86．5％）出现青春期延迟，而在81例非TS病例中仅22例（27．2％），2组间差异有统计学意义（OR=16．297，P=0．000）。结论1．TS的染色体核型呈多样性。2．TS患儿的身高不足随着年龄的增加更为显著，青春期延迟的特征性表现也逐渐显现。3．国内鸭诊断年龄比发达国家延迟；对于身高Z分值低于-2或在身高下限的矮小女童应及早进行染色体核型分析，有益于TS的早期诊断。

Objective To study the distribution characteristics of chromosomal karyotypes, age and height on diagnosis of patients with Turner syndrome（TS）. Methods Karyotypes analysis was performed in 1015 girls with short stature who visited the hospital in recent 27 years. And statistical analysis of the chromosomal karyotypes, age and height on the diagnosis of patients with TS were performed by using the SPSS 11.0 software. Results 1. Two hundred and thirty-two （22.9%） patients were diagnosed with TS. 2. A total of 26 kinds of abnormal karyotypes were detected in 232 patients with TS and the 45, X（ 32.4% ,75/232 cases ） and 46, Xi （Xq） （ 16.4%, 38/232 eases ） were the more common karyotypes. In addition,there were 111 cases（47.8% ） with 21 kinds of mosaicisms which were related to the number and/or structural anomalies of one X chromosome. 3. The median（range） age on the diagnosis was （10.90± 4. 55 ） years old. TS was mainly discovered during adolescence. The diagnosis rates at different ages were as follows： 〈 2 years 15 eases（6.4% ） ,2 - 〈7 years 35 cases（ 15.1% ） ,7 - 〈 12 years 93 eases（40.1% ） and 12 - 〈 18 years 89 cases （38.4%）. 4. The median height Z score was - 3.60 ± 1.20. There was a significant negative linear correlation between age and Z score of height on the diagnosis of TS （r = -0.613,P 〈0. 000）. 5. Eighty-six point five percent （64/74 cases）TS patients with age over 13 years presented pubertal delay at diagnosis,which occurred only in 27.2 % （22/81 cases） of the control group,and there existed a significant difference（ OR = 16.297 ,P =0.000）. Conclusions 1. Chromosomal karyotypes in TS are in diverse ness. 2. In TS patients,as the age increases,delay of height and puber- tal development could be more obvious to observe and more characteristic manifestation of pubertal development would ap- pear. 3. The diagnosis of TS was later in children in our country than that in the developed countries. The analysis of chro- mosomal karyotypes should be detected earlier in the girls with unexplained short stature,height below - 2 Z score of the mean age or the height below the specific lower limit of the peers,so as to benefit the diagnose of TS earlier.