The Study On The Chromosomal Karyotypes Distribution And Lipid Concentrations In Children With Turner Syndrome

ObjectiveThe aim of the study was to investigate the distribution characteristics of chromosomal karyotypes in patients with Turner syndrome and to evaluate the level of their lipid profile。Methods73girls with short stature or pubertal delay were diagnosed the Turner Syndrome by the Karyotypes analysis among the outpatient and inpatient who visited the endocrinology clinic in the Children’s Hospital of Zhejiang University, and the distribution characteristics of chromosomal karyotypes was analyzed retrospectively.32of them were included in the study group(TS group).The control subjects are divided two groups,64age-matched healthy girls were recruitied in the control1and the prepuberty healthy girls were included in the control2groups. After fasting for10hours, Fasting blood triglyceride(TG),total cholesterol(TC), low-density lipoprotein cholesterol(LDL)and high-density lipoprotein cholesterol(HDL) levels were measured.Non-high-density lipoprotein cholesterol(non-HDL)levels were calculated with data collection.Results(1)A total of10abnormal karyotypes were detected in73patients with TS and the45, X(43.8%,32/73cases) were the most common karyotypes. the mosaicisms (45, X/46, XX8cases,45, X/47, XXX4cases,46,XY/45, X2cases) were total14cases (19.2%),and other6karyotypes were related to the structural anomalies of one X chromosome(37%).The diagnosed age of73TS girls was3-18years(10.72±3.68years).(2)Triglycerides(TG), high density lipoprotein(HDL),age and BMI showed not significantly differences between the TS group and control1group(P>0.05),but TS group showed higher Total cholesterol(TC), low density lipoprotein(LDL) and Non-high-density lipoprotein cholesterol(non-HDL) and lower height, weight than control1group(P<0.01). Triglycerides(TG), high density lipoprotein(HDL), total cholesterol(TC), low density lipoprotein(LDL) and non-high-density lipoprotein cholesterol(non-HDL) were higher in TS group than control group2(P<0.05), in which the triglycerides, LDL, non-HDL showed significantly differences between the TS group with control2(P<0.01).Conclusions Most TS patients were diagnosed when they were in school age and adolescent. Chromosomal karyotypes in TS are in diversity,and the most common karyotype is45,X.TS children often presented with abnormal lipid metabolism, mainly with higher TC, LDL and lower HDL concentrations.