| Objective : To analyze the clinical characteristics and karyotype of Turner syndrome,to explore the relationship between chromosome abnormality and clinical phenotype in patients with TS,and to improve the understanding of this disease and its complications,in order to reduce the misdiagnosis rate and missed diagnosis rate.Methods:Collected 15 patients with TS treated in Department of endocrinology of First Hospital Affiliated to Lanzhou University from January 2007 to December2016.The clinical information registration form of patients,including the patient's general information,clinical history,physical examination,laboratory tests and imaging examinations.Determine the diagnostic criteria,and use SPSS21.0 software for data processing,summarize the clinical characteristics of patients with TS,and analyze the relationship between the karyotype and chromosome karyotype.Results:15 cases of TS patients were female.The initial age were 13 to 44 years old,the average age was 19.7±8.1 years old.The initial height was 126.0-165.0cm,with an average height of 141.6±10.8cm.In TS patients aged less than 18 years old,8cases were at the height of the same age girls height of less than third percentile,2cases in the following figure of tenth percentile.The initial weight was 26.0-53.0kg,with an average weight of 38.0±8.0kg.In TS patients aged less than 18 years old,7cases of weight in the same age girls weight of less than third percentile,1 case in the tenth percentile,2 cases in the following figure of the twenty-fifth percentile.11 cases of TS patients with primary amenorrhea.All patients had different degrees of secondary sexual characteristics,the breast development in the Tanner I to Tanner IV period,the genital development in the Tanner I to Tanner II period,and the pubic hair and armpit hair were all absent.12 cases of abnormal uterine development;ovarian dysplasia in 10 cases.Physical examination found 8 cases of TS patients with different forms of special signs: webbed neck,low hairline,multiple facial nevus,cubitus valgus,through hands,large and low ear,palatal arch height and so on.Laboratory examination revealed the chromosome karyotype of 9 cases were45,X0,4 cases were 46,X,i(Xq),and 1 case was 46,X,inv(Xq),and 1 case was45,X0/46,XX.The basal growth hormone level was 0.06-8.69ng/mL,with an average value of 2.42±3.07ng/mL.12 cases of estradiol level was relatively low,with an average value of 18.87±5.43pg/m L,while follicle stimulating hormone and luteinizing hormone levels were increased,the average value of FSH was69.89±29.04mIU/mL,and the average value of LH was 18.59±9.22mIU/mL.5 cases had abnormal liver function,1 case had type 2 diabetes mellitus and 2 cases had elevated blood lipid level.8 cases of patients with Hashimoto's thyroiditis,including 2 cases with subclinical hyperthyroidism,1 case with Graves' hyperthyroidism,3 cases with subclinical hypothyroidism,1 case with hypothyroidism.1 case complicated with congenital dysplasia of the pituitary gland,1 case with congenital heart disease atrial septal defect,1 case with horseshoe kidney,2 cases with osteochondroma.Conclusions:1.Turner syndrome is often associated with thyroid diseases,of which the incidence of Hashimoto's thyroiditis is high.The reason of the positive thyroid autoantibodies may be related to HLA-DQ genes,which come from paternal inheritance.And the reason may also be associated with the FOXP3 gene on the X chromosome.2.Turner syndrome is often associated with abnormal liver function,glucose metabolism disorders and lipid metabolism disorders,which is related to the number and structure of X chromosome.And a variety of specific imaging findings can be seen in Turner syndrome,such as congenital dysplasia of the pituitary gland,congenital heart disease atrial septal defect,horseshoe kidney,osteochondroma. |
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