Analysis Of Chromosome And Clinical Features In 42 Patients With Turner Syndrome

Background and ObjectTurner syndrome?TS?,also known as congenital ovarian hypoplasia syndrome,is caused by complete or partial deletion of one X chromosome in all or part of somatic cells,or other structural abnormalities of X chromosome.It is one of the common human chromosomal diseases.The main clinical manifestations are short stature,gonadal dysplasia,primary amenorrhea,short neck,webbed neck,low posterior hairline,shield chest,cubitus valgus,etc.More and more abnormalities in patients with TS have been reported,and the proportion of clinical misdiagnosis and missed diagnosis is still high.In this paper,the clinical data of 42 patients with TS were analyzed retrospectively in order to deepen the understanding of the clinical features of TS.MethodsClinical data of 42 patients with TS who were admitted to the endocrinology department of the first affiliated hospital of zhengzhou university from January 2011to September 2018 was collected,and the clinical characteristics and the results of chromosomal karyotype examination were analyzed retrospectively.Results?1?All 42 cases of TS patients were female.The main reasons for seeking treatment were short stature,primary or secondary amenorrhea,and dysplastic second sex characters.Physical examination revealed 12 special signs and none of patients were pregnant.?2?Among the 42 cases of TS patients,11 kinds of karyotypes were found,and the two most common karyotypes were 45,X?42.86%,18/42 cases?and 46,X,i?X??q10??23.81%,10/42 cases?.?3?Correlation analysis of height and liver enzymes:Ht-SDS was positively correlated with BMI?r=0.443,P<0.05?,but had no significant correlation with age?only including patients whose age was?18 years old?,GH peak,FSH,LH and E₂?P>0.05?.10 cases?27.03%,10/37 cases?had abnormal liver function which were characterized by elevated liver enzymes.The AST was positively correlated with TG?P<0.05?,ALT was positively correlated with age and TG?P<0.05?,and GGT was positively correlated with age,TG and T-CHO?P<0.05?.No correlation was found between liver enzymes and BMI,E₂,HDL,LDL and chromosome karyotypes?P>0.05?.?4?Other laboratory examinations:the results of sex hormone examination mainly showed that E₂ was lower than normal,and FSH and LH were higher than normal?92.31%,36/39 cases?.Six cases?16.22%,6/37?had elevated blood lipids.7cases of TS patients had abnormal glucose metabolism,and 12 cases?28.57%,12/42cases?had hashimoto's thyroiditis;?5?Imaging examination:ultrasound examination of uterus and bilateral appendages showed 37 cases of dysplasia?94.87%,37/39 cases?;Bone and joint abnormality was 16 cases?38.10%,16/42 cases?;Hepatic ultrasound revealed fatty liver in 7 cases?25.93%,7/27 cases?,cardiac ultrasound abnormality was 6 cases?19.35%,6/31 cases?,and urinary system ultrasound abnormality was 4 cases?18.18%,4/22 cases?.Conclusions?1?In patients with TS,45,X was the most common karyotype and 46,X,i?X??q10?was the next most common.The different karyotypes in different tissues and the different proportion of chimeric karyotypes in different tissues is one of the reasons for the different clinical manifestations in patients with TS.?2?In addition to short stature,second sex characters and gonadal dysplasia,amenorrhea and other characteristics,patients with TS always merge multiple systemic abnormalities.Doctors'attention to patients with TS should last for a lifetime.?3?Patients with TS have a higher prevalence of liver dysfunction,which is related to high triglycerides,high cholesterol and fatty liver.