The Etiological Analysis And Genetic Diagnosis Of Short Stature

Objective: To analyze the causes of short stature,compare the differences of clinical characteristics between genetic diseases and other common causes of short stature,and discuss the advantages of chromosome karyotype analysis and genetic testing in the diagnosis of genetic diseases,so as to formulate individualized treatment plans.Methods: Clinical date of 86 short stature patients hospitalized in our endocrinology department from January 2016 to September 2017 was collected and analyzed retrospectively.All patients were grouped according to different causes,compared the differences of clinical characteristics among groups of the common causes.The measurement data was analyzed to use the variance analysis of multiple single factors or Kruskal-Wallis test.The clinical characteristics of various genetic diseases were analyzed descriptively.Results:1 Etiological classification of short stature patientsThere were six kinds of causes of children with short stature in our hospital,and they were respectively idiopathic short stature syndrome(ISS)(40.7%),growth hormone deficiency(GHD)(29.0%),genetic diseases(14.0%),small for gestational age(SGA)(9.3%),constitutional delay of growth and puberty(CDGP)(5.8%),and renal tubular acidosis(RTA)(1.2%)in order from more to less.2 Compare the group of genetic diseases with ISS and GHD.2.1 There was no statistical difference(P>0.05)in age,height,length and weight of birth,height of parents and IGF-1.2.2 The difference value to the third percentile(ΔP3)and the height standard deviation score(HtSDS)of genetic diseases were significantly lower than ISS and GHD,and there was statistical difference(P<0.05)compared with the former,but was not with the latter(P > 0.05).We applied ROC curve todetermine the optimal cut-off point of ΔP3 and Ht SDS,which were respectively-6.45 cm and-2.74,used to screen genetic diseases.2.3 Compared with ISS and GHD,the value of growth hormone peaks of genetic diseases was lower than the former,but higher than the latter,and there was statistical difference(P<0.05).3 There were heterogeneity and phenotypic overlap in clinical manifestations among patients with different genetic diseases.By chromosome karyotype analysis,we found 6 cases of chromosome abnormalities(the detection rate was 15.8%),which were all female;By genetic testing,we found 6 cases were genetic abnormalities(the detection rate was 18.8%),whose ratio of male to female was 1:5.Conclusion:1.There was a great diversity of causes to short stature,and the most common causes were ISS and GHD.2.It could not be ignored the short stature caused by genetic diseases,whose degree of short stature was the most obvious.3.Those short stature children with bone deformities and special appearance,especially ΔP3 under-6.45 cm and HtSDS below-2.74,should be performed genetic testing after excepting from GHD.4.All female short stature children should regularly perform chromosome examination.