Correlation Between Chromosomal Karyotype And Clinical Characteristics In Patients With Mosaic Turner Syndrome

Background And ObjectiveTurner syndrome(TS)is a kind of chromosome disease caused by lack of 1 or partial X chromosomes,and the incidence of female is 1/2500.The chromosome karyotype of TS consists of haplotype,chimerism,structural abnormality of X chromosome and Y chromosome karyotype.The majority of patient's clinical phenotypes are short stature,dysplasia of uterus or ovary,dysplasia of external genitalia,primary amenorrhea,infertility,lack of breast development and other symptoms,and because of the difference in the patient's karyotype,their clinical manifestations vary.Patients with mosaic Turner syndrome are often found with the disease due to slow growth,amenorrhea,irregular menstruation,or infertility in adulthood.And the disease can only be diagnosed by karyotype analysis.Because chimera patients have atypical clinical features,misdiagnosis rate and missed diagnosis rate are increased.To analyze the clinical manifestations and chromosome karyotype and management of mosaic Turner syndrome,to explore the relationship between clinical manifestations and chromosome karyotypein patients with mosaic Turner syndrome,and to improve the understanding of this disease andits complications,to provide a basis for further study on the disease.MethodsFrom April 2012 to November 2016 for treatment of short stature,growthand development is slow or secondary sexual characteristics growthretardation and primary amenorrhea in the First Affiliated Hospital of Zhengzhou University,obstetrics and gynecology clinic bykaryotype analysis confirmed 25 cases over the same period of the mosaic Turner syndrome patients.The standing height,growth of secondary sex characteristic and external genitalia were measured.The levels of sex hormones,other endocrine parameters were also tested,heart and kidney and pelvic ultrasound was performed to probe the reproductive organs and glands and to explore the relationship between clinical manifestations and chromosome karyotype in patients with mosaic Turner syndrome.Results1.Karyotype analysis: Laboratory examination revealed the chromosome karyotype of 15 cases were 45,X/46,XX,which accounted for 60%.6 cases were 45,X/47,XXX,which accounted for 24% and 4 cases was 45,X/47,XXX/46,XX,which accounted for 16%.2.Clinical features: The age at first evaluation of the 25 individuals with mosaic Turner syndrome ranged from 20 to 42 years old.The average age was 30.4±6.3 years old.There was no significant difference between the appearance of the patient and the normal person.One case had three black moles on the face and right arm,and one case of cubitus valgus significantly All patients presented as females.The height of first diagnosis was 135.0-168.0cm,and the average height was 155.2±6.3cm.There were 4 cases had primary amenorrhea,11 patients had different dysplasia of secondary sex characteristic,13 cases of uterine dysplasia,10 cases of ovarian dysplasia.There were no uterus and bilateral ovaries in 1 case,and 1 case had no ovary.There was 1 patient with bilateral duplex kidneys who had normal renal function.Among 18 patients,no abnormalities were detected by echocardiography.Of the 22 chimeric patients who were married and had fertility requirements,1 patient had a general condition at 18 weeks of gestation.There were 2 cases of previous childbirth and healthy offspring,5 patients had previous miscarriage history,and secondary infertility were 14 cases.3.Laboratory inspection: The basal 9 cases of estradiol level was relatively low,with anaverage value of 14.89±15.67pg/mL,while follicle stimulating hormone andluteinizing hormone levels were increased,the average value of FSH was 39.49±21.17mlU/mL and the average value of LH was 17.74±7.41mIU/mL.Twenty-five patients were examined for free triiodothyronine(FT3),free thyroxine(FT4),and thyroid stimulating hormone(TSH)and no abnormalities were found.Conclusion1.Among patients with TS chimerism,the highest proportion of patients with a karyotype of 45,X/46,XX.The clinical phenotype of patients with mosaic Turner syndrome is less typical than that of typical TS patients,The higher the proportion of normal karyotypes in chromosomes,the more abnormal the clinical manifestations of patients are.2.The patient's stature is generally short.A few patients can appear normal development of puberty and natural conception,but the pregnancy outcome is mainly abortion.The patients had fewer cardiovascular abnormalities,and had spontaneous puberty and natural conception.However,the main outcome of pregnancy was abortion.3.Persons with short stature,abnormal development of reproductive organs,infertility,and dysplastic secondary sexual characteristics should be screened for chromosome and genetic tests to reduce the rate of missed diagnosis and from the early intervention,we can improve the patient's survival quality.