关键词: 特纳综合征, 染色体

Abstract: Objective  To collect and analyze the clinical data of patients with Turner syndrome(TS)， and to strengthen the understanding of clinical features and chromosomal abnormalities in patients with TS. Methods  A total of 15 patients with TS  were  included and the results of laboratory tests and imaging findings were collected. Results  There were 4 kinds of chromosome karyotypes in these patients， 9 cases were 45，X0，1 case was 46， XX/45， X0， 4 case was 46， X，i(Xq) and 1 case was 46， X，inv(Xq). The primary diagnosis age of 10 patients was ≤18 years old.  The height 8 patients was  less than the third percentage of height in girls of the same age， 2 of them less than the tenth percentage.Breast and vulva with different degrees of dysplasia were found in 15 patients and their  pubic hairs and armpit hairs were absent. The abnormal development of uterine and ovarium were 12 and 10 cases， respectively. Totally 12 cases of patients showed decrease in estradiol， but their  follicle stimulating hormone and luteinizing hormone were relatively high. Totally  8 cases of patients associated with Hashimoto thyroiditis，in which the complications of subclinical hyperthyroidism， Graves' hyperthyroidism， subclinical hypothyroidism and hypothyroidism were  2，1，3，1 cases， respectively. Totally 5 cases of patients showed abnormality in liver function; 1 case of them had type 2 diabetes mellitus. There was 1 case of them had combined atrial septal defect of congenital heart disease and 1 associated with the disease of horseshoe kidney. Conclusion  The patients with TS have many different kinds of chromosome karyotypes and clinical signs， but they all have the characteristics of growth retardation and gonadal dysgenesis.

Key words: turner syndrome, chromosomal