Individualized Diagnosis And Treatment Of Congenital Ovarian Dysplasia Syndrome

Background:Congenital ovarian dysplasia syndrome,also known as Turner syndrome,is a rare female genetic disease whose main clinical symptoms are short stature and ovarian insufficiency.The treatment goals of Turner syndrome patients are to improve the height and promote gonadal development,and the subcutaneous injection of recombinant human growth hormone is the main treatment method to improve the height.In recent years,we found that in the same adjustment of medication based on growth indexes such as height and bone age,the growth rate of some TS patients is still slow.In the course of the application of recombinant human growth hormone therapy,some researches have found that the signaling pathway of growth hormone in humans is associated with polymorphism in genes.Objective:1.To investigate the relationship between gene polymorphisms of cyclin-dependent kinase 4(CDK4)in patients with Turner syndrome and the effect of recombinant human growth hormone therapy.2.To evaluate the efficacy and safety of recombinant human growth hormone.Method:All the 26 patients enrolled in this study were from the TS patients who came to the Pediatric Endocrinology Outpatient Clinic at the China-Japan Friendship Hospital.All patients were injected with recombinant human growth hormone and their therapeutic effects were observed.According to the genotyping of the rs2069502 and rs2270777 loci of the CDK4 gene,the growth indices of the patients after treatment were compared.From the start of treatment,the follow-up time was 6 months.Except for general conditions,genetic factors,hormone levels and other factors affecting the height growth rate,record the patient's actual age,height,height standard deviation score(HtSDS),body weight,bone age(BA),and insulin-like growth factor before and after treatment-1(IGF-1)and other indicators,and calculate height increase(?Ht),HtSDS change(?HtSDS),growth rate,IGF-1 change(?IGF-1),bone age change(ABA).During the study,allergic reactions and adverse reactions symptoms should be recorded,and the safety indicators of drug treatment should be tested.The number of categorical variable cases is expressed and the continuous variables are expressed as mean ± standard deviation.The growth indicators were compared before and after treatment for each group of genotypes.Two independent sample t-tests were used if the difference before and after treatment was normal distribution,and non-parametric Wilcoxon rank sum test was used if they did not obey the normal distribution.All statistical analyses were performed using SPSS 17.0 software.The statistical test was a two-sided test with a test level of 0.05.A statistical P<0.05 was considered statistically significant.Result:1.HtSDS and IGF-1 in all TS patients after r-hGH treatment were higher than before treatment(P<0.05).2.The growth rate,?Ht,?HtSDS and ?IGF-1 in rs2069502 locus were all higher than those in GG&GA group after treatment(P<0.05).There was no significant difference in height,weight,HtSDS and BA in each group before and after treatment.There was no significant difference in ?BA between the two groups(P>0.05).3.HtSDS in rs2270777 locus was higher than that in GA group after treatment(P<0.05).There was no significant difference in height,weight,HtSDS,IGF-1 and BA in each group(P>0.05)before and after treatment.There was no significant difference in growth rate,?Ht,?IGF-1 and ?BA(P>0.05).Conclusion:1.Patients with AA genotype at rs2069502 locus were more likely to have r-hGH treatment than those at GG genotype.There is no significant difference in the response of r-hGH drug of rs2270777 locus of GG and GA genotypes.It can be seen that the polymorphism of CDK4 has a certain effect on the therapeutic effect of r-hGH.2.r-hGH is a safe and effective drug for treatment of Turner syndrome,and it is worthy to rrecommend.