| Objective To analyze whether there are differences in clinical features,hormone levels,and color doppler ultrasound of the uterine adnexa between different karyotypes of Turner syndrome（TS）;to investigate the effect of recombinant human growth hormone（rh GH）on children with TS.Methods From January 2010 to August 2022,37 children diagnosed with TS at Ningxia Medical University General Hospital were selected for the study,and collected their current medical history,birth history,and auxiliary examinations.According to the karyotype,the patients were divided into haplotype group（group A）and other karyotype groups（group B）,and the clinical data were statistically analyzed.Twenty-two children（6 in group A and 16 in group B）were treated with rh GH for 1 year at a dose of 0.15 to 0.2 U·kg-1·d-1to observe height gain.Results 1.All 37 children with TS were female;the age at initial diagnosis ranged from1 month to 16 years,with a mean age of（9.69±3.55）years,and the height at initial diagnosis ranged from 44.5 to 145 cm,with a mean height of（120.62±11.68）cm.Causes of first diagnosis:35 cases（94.60%）presented with height lag,1 case presented with amenorrhea,and 1 child diagnosed at 1 month of age presented with intrauterine dysplasia.2.Karyotype classification:12 cases（32.43%）of haplotype,25 cases of other karyotypes:19 cases（51.35%）of mosaicism,5 cases of 45,X/46,XX,12 cases of monosomy with chromosomal structural abnormalities.Chromosomal structural abnormalities including short arm deletion,ring chromosome,marker chromosome,parabrachial inversion,long arm isobrachial,translocation,etc.;1 case containing Y chromosome was 45,X/46,XY,and the phenotype was female.3.Clinical data of 36 children with TS:36 children could be diagnosed as short stature,21 children（58.33%）had height<-3SD,and 28 children（77.78%）had BA more than 1 year later than CA.None of the 36 cases had genital malformations,and the vast majority of children developed immature breast（69.44%）and pubic hair（97.22%）.Sixteen patients developed special facial and somatic features,and one child could present with multiple features at the same time;six patients developed scoliosis,all of which were mild.Two patients had hypothyroidism and one patient had Graves’disease.Growth hormone（GH）provocation tests were perfected in 22 children:9 had normal GH secretion in vivo,7 had complete GH deficiency,and 6 had partial GH deficiency.One child had spontaneous menarche and two children developed menstruation after estrogen therapy,both in group B.4.There were no significant differences in CA,BA,Ht,and Wt at initial diagnosis between group A and group B（P>0.05）,while there were significant differences in Ht-SDS（P<0.05）,and the height lag behind in group A was more significant than that in group B.Facial and somatic features were present in 75.00%of the children in group A,which was much greater than that in group B（29.17%）;utero-ovarian development was abnormal in all12 children in group A and normal in 10 children in group B;the two differences were statistically significant（P<0.05）.BMI,bone age difference,Tanner B,Tanner PH,vitamin D levels,and scoliosis（mild）were not significantly different between the two groups（P>0.05）.5.Nine children aged 4 to 10 years did not show changes in TS sex hormone levels.53.33%（8/15）of adolescent children showed the sex hormone levels typical of TS（high FSH,LH,low E2）.The difference of FSH between group A and group B was statistically significant（P<0.05）,and FSH level was significantly higher in group A than in group B.but LH and E2 were not significantly different between the two groups（P>0.05）.6.The Ht,HT-SDS and GV of 22 children after 3 months,6 months and 1 year of rh GH treatment were increased compared with that before treatment,and Ht,HT-SDS and GV at different time points were significantly different（P<0.01）.There was no significant difference in Ht,Ht-SDS,and GV changes before and after treatment between groups A and B（P>0.05）,but the increase trend of Ht,HT-SDS and GV in group B was more obvious than that in group A.The mean age of the 22 children with TS was（10.24±2.78）years,10 cases were 0～10 years old,and 12 cases were 10～16 years old,and there was a significant difference in Ht between the two groups（P<0.01）,but no significant difference in GV and Ht-SDS（P>0.05）,and also was no difference in the magnitude of change of Ht,GV,and Ht-SDS before and after treatment in children of different ages（P>0.05）.7.Multiple comparisons after the event showed that there were significant differences in Ht and Ht-SDS among all groups at different treatment time points（P<0.01）,and with the extension of treatment time,Ht and Ht-SDS showed an increasing trend.There were significant differences in GV between 3 months,6 months and 1 year after treatment and before treatment（P<0.01）.There was significant difference in GV between 6 months after treatment and 1 year after treatment（P<0.05）.There was no significant difference in GV between groups at the remaining time points.GV gradually increased from before treatment to 6 months after treatment,and decreased after one year of treatment,but it was still higher than that before treatment.Conclusion 1.Short stature is a common reason for presentation in children with TS,and more than two-thirds of girls lag behind in bone age by more than 1 year.2.Compared with other karyotypes,children with haplotype have more severe clinical manifestations,which are mainly reflected in height lag,facial and skeletal malformations,and utero-ovarian development in this study.3.Adolescent girls with TS may show high gonadotropin levels,and FSH levels are significantly higher in haplotype children than in other karyotypes.4.Growth hormone can effectively improve the final height of children with TS,the longer the treatment time,the more obvious the effect,and low incidence of adverse reactions.There was no significant difference in the changes of Ht,Ht-SDS and GV before and after rh GH treatment in different karyotypes,but the increasing trend of Ht,GV and Ht-SDS in other karyotypes was more obvious than that in monosomy karyotype group. |
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