The Correlation Of Karyotype And Phenotype In Turner Syndrome

Purpose:Summarize the correlation of karyotype and phenotype in Turner syndrome(TS).Methodology:A total of 111 TS patients admitted to the Department of Endocrinology of Children's Hospital of Jiangxi Province from 2014 to 2017 were studied.The age ranged from 3 months to 16 years.To establish the diagnostic basis for each clinical phenotype of TS disease,the karyotype of the study was divided into 5 groups,Group1: 47 chromosome 45 XO groups;Group 2: 7 chimeric chromosome groups;Group 3:isoarm chromosomes Group 32 cases;Group 4: 12 cases with Y chromosome group;Group 5: Ring X chromosome or partially deleted chromosome 13 cases.Statistical analysis of the distribution of each clinical phenotype in each group of karyotypes and their associations.SRY gene was detected in 53 TS patients using the SRY gene detection kit.Finally,using SPSS 20.0.0 statistical software,the count data are expressed as percentages,and the data between the two groups are compared using chi-square test.P<0.05 is considered statistically significant.Result:Ninety-eight cases(88.3%)were children with short stature,among which 77cases(69.3%)were lower than the standard height of individuals of the same age,same sex,and same age by more than 3 standard deviations.Chimeric chromosomes and Y chromosomes were included.The height of the group is better than the other three groups.Of the 64 patients(68.8%)in this group,the most common signs were cervical hernia,60(54.1%)children had facial paralysis,55(49.5%)had low hairline,and 46 patients(41.4%).Cases with elbow valgus performance,35 cases(31.5%)have a wide milk interval performance.There was no statistical difference in the signs of karyotypic children.Thirty-five patients underwent echocardiography,and 6(17.1%)had cardiovascular system abnormalities.Four of them were from the 45 and XO groups.All patients underwent liver and kidney function tests.Eighteen patients(16.2%)had abnormal liver function at the first visit.All patients underwent thyroid function tests.Twenty-six patients(23.4%)had abnormal thyroid function.There was no statistically significant difference in the distribution of thyroid function among the groups.Among the patients over 12 years of age,there were only 9 patients with breast self development and 2 patients with spontaneous menarche,mostly concentrated in the chimera chromosome group.Two cases of clitoral hypertrophy appear like penis,both in the Y chromosome.There was one case of pituitary microadenomas,one with hemangioma,one with neonatal edema,and one case with juvenile ankylosing spondylitis,all of which were 45,X monomeric karyotypes.The SRY gene was detected in 53 patients with TS,12 of them were Y chromosome group,and 5 were positive.All of them were from the Y chromosome group,and the rest were negative.Conclusion:Most children with TS have short stature,but there are also TS patients with normal height that are easily missed in childhood.Neck spasm,facial spasm,and low hairline are the most common signs of TS appearance.There are also some patients with very atypical appearance signs that are easily missed.Only a small percentage of patients develop autonomously and are mostly concentrated in the chimera genome.The risk of heart,liver,and thyroid disease is high,especially in children with 45,XO chromosomes.Other children with neoplastic ankylosing spine were 45,XO chromosomes.In patients with TS with Y chromosome,the positive rate of SRY gene is high,and if necessary,gonadal resection is performed.It is recommended that all children with dwarfism routinely perform chromosome tests,especially 45,and the incidence of complications in patients with XO chromosomes is high.All children with confirmed TS should pay attention to the examination of functional organs.