Analysis of chromosomal karyotypes, age and height on diagnosis of 232 patients with Turner syndrome / 中华实用儿科临床杂志

ABSTRACT

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 cases) 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 cases(6.4％),2-＜7 years 35 cases(15.1％),7-＜ 12 years 93 cases(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 pubertal development could be more obvious to observe and more characteristic manifestation of pubertal development would appear.3.The diagnosis of TS was later in children in our cotmtry than that in the developed countries.The analysis of chromosomal 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.