Etiological Analysis And Chromosome Abnormality Of Short Stature In Handan Area

Objective: To analyze the constituent ratio of the causes of short stature in Had Dan area,compare the influencing factors of the common causes,and further discuss the types and incidence of chromosome abnormalities.Methods: The clinical data of 515 children with short stature in Had Dan area from February 2019 to December 2021 were retrospectively analyzed.The causes and distribution frequency of short stature in Had Dan area were compared and analyzed.The differences among the influencing factors of common pathogenic groups of short stature were analyzed and compared,including idiopathic short stature(ISS),growth hormone deficiency(GHD),precocious puberty and chromosome abnormality,and the related factors of GHD were analyzed by logistic stepwise multiple regression to further explore the type and incidence of chromosome abnormal karyotype.Results:1.Among the 515 cases of short stature in Had Dan area,ISS367(71.26%),GHD 56(10.87%),precocious puberty 47(9.13%),chromosome abnormality 22(4.27%),Small for gestational age,SGA(Small for gestational age)10(1.94%),hypothyroidism 7(1.36%).The rest were hypophysis,ectopic neurohypophysis,iron deficiency anemia,hyperuricemia,nephrotic syndrome and chronic tonsillitis in 1 case(0.19%).2.Research has showed that there were significant variations in sex,age of diagnosis,bone age,bone age lag,BMI,parental height,genetic height,GH,IGF-1,IGF-BP3 and 25-hydroxyvitamin D3 in patients with four common short stature(ISS,GHD,precocious puberty and chromosome abnormality).3.With regard to the influencing factors of growth hormone deficiency,Logistic stepwise multiple regression analysis showed that sex,age of diagnosis,bone age,genetic height,GH,IGF-1and 25-(OH)-D3 were independent risk factors of growth hormone deficiency.4.Among them,386 patients with short stature were tested for chromosomes,and the proportion of abnormal karyotypes was5.6%(22 cases).The proportion of sex chromosome abnormalities was 86.36%(19 cases),including 59.0%(13 cases)of sex chromosome number abnormalities and 27.3%(6 cases)of structural abnormalities.Turner’s syndrome was the main type of81.81%(18 cases).Among them,(45,X)haplotype was 27.27%(6cases),(45,X)chimera type was 45.45%(10 cases),and 2 cases of super-X syndrome were found.13.64%(3 cases)of autosomal abnormalities were mainly characterized by changes in chromosome polymorphism,in which 1 case carried a tiny extra marker chromosome.Conclusion:1.The etiology of short stature is complicated,and the diagnosis rate of short stature in Had Dan area is increasing year by year.ISS,GHD,precocious puberty and Turner syndrome are the four usual etiologies of short stature.2.The clinical characteristics of ISS group are not significant,but there are significant differences in influencing factors between precocious puberty group and other groups,which are helpful to guide clinical diagnosis.3.The growth stimulation test is affected by many factors.Sex,age of diagnosis,bone age,genetic height,GH,IGF-1 and25-(OH)-D3 are independent risk factors for the occurrence of growth hormone deficiency,which can be used for disease screening and improve the rate of diagnosis.4.The diagnosis rate of children with chromosome abnormality is still low,mainly sex chromosome abnormality,and the diagnosis of chimera is increasing day by day,especially the isobaric X karyotype is prominent.attention should be paid to the emergence and treatment of autoimmune related diseases in clinical work.