| Background and ObjectiveTurner syndrome(Turner Syndrome,TS),also known as congenital ovarian hypoplasia syndrome,is caused by the complete or partial deletion of one X chromosome in all or part of somatic cells,or the abnormal structure of X chromosome.The major clinical presentations include short stature,gonadal dysgenesis,skin pigmented nevus,webbed neck,shield-shaped chest,wide lactation distance,elbow valgus,etc.TS patients have different karyotypes,which are composed of the haploid chromosomes,mosaicism,X chromosome structural abnormalities and Y-containing karyotypes.Among the chimeric types,45,X/46,XX are more common.Compared to patients with X monosomy,45,X/46,XX patients have different clinical manifestations due to the ratio of karyotype chimeras,which may have certain ovarian function and fertility.But there is still a risk of developmental delay,premature ovarian failure,spontaneous abortion during pregnancy,fetal abnormalities,comorbidities during pregnancy and perinatal death.Hormone therapy,fertility preservation,and strict management during pregnancy are all needed.In this study,by analyzing the relationship between the karyotype distribution and clinical characteristics of TS patients with 45,X/46,XX karyotype,the characteristics of this disease,the different factors affecting gonadal development and fertility,the treatment and the risk associated with gestation have all been studied in order to improve the understanding of the pathogenesis,clinical manifestations,treatment and fertility program selection of this disease.MethodsClinical data were collected from 32 patients who visited the Obstetrics and Gynecology Department of the First Affiliated Hospital of Zhengzhou University from April 2012 to May 2018 and then diagnosed as 45,X/46,XX by chromosome G-banding karyotype analysis,including clinical manifestations,pregnancy outcomes,karyotype analysis results,laboratory and imaging examination results,and drug treatment record.The proportion of abnormal cell lines in the karyotype is called the chimeric ratio.Literature showed that patients with a chimerism ratio≤10%had no obvious clinical characteristics,and their growth and development and ovarian function were less affected.To retrospectively analyze the correlation between clinical characteristics and various indicators,the patients were divided into two groups:chimerism ratio≤10%and>10%.Clinical data were compared between the two groups and the healthy control group with the same age,the therapeutic effect of amenorrhea patients was finally analyzed.SPSS 22.0 statistical software was used for analyzing and processing the data.The measurement data was described by mean±standard deviation(x±s).The count data was expressed as a percentage(or rate).The quantitative data of the two samples were compared by t test or rank sum test.The qualitative data of the two samples were compared by Fisher’s exact probability method.Spearman rank correlation analysis was used to determine the correlation between the two variables.One-way anova was used for comparison among the three groups,and LSD-t test was used for pound-pair comparison.When α=0.05 was used as the test level and P<0.05 was used as difference,it was considered statistically significant.Results1.Basic characteristics:The reasons of visit for 32 patients including amenorrhea,primary or secondary infertility,the average age of the patients was 34.91 ± 5.22 years old,and the average height was 156.78±4.67cm.The height of 11 patients was lower than the average of the same age and sex-2s,30 cases had spontaneous menarche,the average age of menarche was 13.80±1.25 years old,25 cases had regular menstrual cycle,13 cases had spontaneous pregnancy history,3 cases had healthy offspring.Seven cases had dysplasia of the second sex,one case showed elbow valgus,and one case had facial nevus.2.Laboratory and imaging examination:7cases showed hypogonadotropin-induced hypogonadism and 3 cases showed subclinical hypothyroidism.10 cases of transabdominal color Doppler ultrasound showed uterine and ovarian dysplasia,and 2 cases of urinary ultrasound showed abnormalities.3.Karyotype distribution and correlation analysis:Karyotype chimeric proportion of patients ranges from 6%to 87%,the chimeric proportion of 8 cases was less than 10%,and the chimeric proportion 24 cases was greater than 10%.The chimeric proportion was correlated with FSH and age of menstruation(P<0.05),but no correlation was found with age,height and TSH(P>0.05).4.The height of 32 patients was lower than that of the control group,the difference was statistically significant(P<0.05.The FSH,E2 and uterine volume of the patients were analyzed,and the differences between the three groups were statistically significant(P<0.05).Compared with the control group,there was no statistically significant difference in the three indicators among patients with a mosaic ratio≤10%(P>0.05).Patients with a mosaic ratio>10%had higher FSH,lower E2,and smaller uterine volume,The difference was statistically significant(P<0.05).The mosaic ratio≤10%was better than that of patients with>10%in uterus and ovary development,and the proportion of spontaneous pregnancy was higher.The difference was statistically significant(P<0.05).5.Analysis of influencing factors of spontaneous pregnancy:the differences in the influence of different chimerism ratio,uterine and ovarian development,and FSH on spontaneous pregnancy were statistically significant(P<0.05),while the differences in the influence of different height,menarche age and menstrual conditions on spontaneous pregnancy were not statistically significant(P>0.05).6.Treatment:7 cases of amenorrhea patients were treated with oral hormone supplementation.After 6 months,the menstrual cycle was regular.Re-examination of FSH and LH decreased significantly,and E2 increased significantly.The difference was statistically significant(P<0.05).Conclusion1.The clinical manifestations of 45,X/46,XX patients are short stature and gonadal dysplasia,and most have spontaneous pubertal development.The diagnosis of patients with atypical appearance and signs is often delayed.Early chromosome screening should be strengthened.2.45,X/46,XX patients with different peripheral blood karyotype chimera ratio have different effects on the clinical phenotype,patients with chimera ratio≤10%are less affected,can have regular menstruation and natural pregnancy,but prone to secondary amenorrhea and spontaneous abortion.3.In 45,X/46,XX patients with hypogonadism,progesterone medication can effectively improve gonadal function and increase the possibility of conception.Early medical intervention is conducive to improving the quality of life. |
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