| ObjectiveThis monocentric study aims to provide a reference for clinical assessment of children with tall stature by retrospectively analyzing the clinical data,summarizing and analyzing the consultation clinical features.MethodsUsing,"tall stature" and "height>P97" as search terms,with the age limit of ">2 years old,<14 years old",consultation time of "May 2014～January 2022",and consultation department of "pediatrics",children with complete clinical data in the medical data intelligence platform of Qingdao University Hospital "MeduCloud" were hereby included.General data of the study subjects,including actual age,gender,chief complaint,current medical history,birth history,past history,and family history,Physical examination collected head circumference,height,fingertip distance,sitting height,weight,were collected.Comprehensive physical examination data,including facial and physical appearance,heart,lungs,abdomen,and external genitalia examination,were also collected.Besides,routine laboratory tests included routine blood and urine,liver and kidney functions,blood glucose and lipids.Endocrine tests included IGF-1,thyroid function,adrenocorticotropic hormone,adrenocorticotropic hormone,insulin,sex hormone,GnRH excitation test,etc.Imaging tests included ultrasound of organs,bone age,and cranial(pituitary)MRI,and specialty tests included chromosome karyotype analysis,genetic testing,etc.Body mass index(BMI),height standard deviation score(Ht SDS),and body mass score standard deviation score(BMI SDS)were calculated.Additionally,the patients were divided into two groups according to the presence or absence of abnormalities in birth,development and appearance,and classified in accordance with the diagnostic criteria of different causes within the two groups.The composition of each cause was analyzed,the differences in sex,age,Ht SDS and BMI SDS were compared;multiple independent variables among different causes,as well as multiple regression analyses were investigated to explore the different characteristics of different causes.Finally,the characteristics of visits complaints and the trend of changes in visits caused by various reasons over the years were summarized,and SPSS 26.0 statistical software was applied for data analysis.Results1.Summary of general data of children with high stature:(1)There were 102 children with tall stature,including 41(40.20%)males and 61(59.8%)females,the average age was 8.06 years,8.44 and 7.80 for boys and girls,respectively,all before puberty.The causes of tall stature in children were as follows:46 cases(45.10%)of obesity,30(29.41%)of precocious puberty,14(13.73%)of CAG,5(4.90%)of familial tall stature,3(2.94%)of hyperthyroidism and 1(0.98%)of increased growth hormone among those with normal birth,development,and appearance(97.06%),and 2 cases(1.96%)of Marfan syndrome and 1 case(0.98%)of Sotos syndrome among the birth,developmental and appearance abnormalities(2.94%).(2)The mean age of obese among those with normal birth,development and appearance was 8.55 years,with a ratio of 1.56:1(28/18)for male:female,8.72 years for boys and 8.30 years for girls;the mean age of precocious puberty was 7.70 years,1:6.5(4/26)for male:female,7.82 years for boys and 7.69 years for girls;the mean age of the CAG group was 8.6 years,1:2.5(4/10)for male:female,9.12 years for boys and 8.39 years for girls;the mean age of the familial tall stature group was 4.9 years,1:1.5(2/3)for male:female,5.23 years for boys and 4.69 years for girls;the mean age of the hyperthyroidism group was 6.97 years;and the growth hormone increased group was one case of 7.52 years old male.Among the birth,developmental and appearance abnormalities,there were 2 cases of Marfan syndrome,1 in a 12.33-year-old boy and 1 in a 7.67-year-old girl;and there was 1 case of Sotos syndrome in a 3.83-year-old boy.2.Ht SDS analysis of children in the two groups with normal and abnormal birth,development and appearance:The Ht SDS of the normal group with normal birth,development and appearance was 2.583(±0.89),while that of children in the abnormal group was 4.100(±0.55),with statistically significant differences observed between the two groups(t=3.1288,P<0.05).3.Clinical characteristics of children with normal high stature at birth,development and appearance for common reasons,and multiple regression analysis of multiple different independent variables:(1)Comparison of clinical features including obesity,precocious puberty,CAG,and familial tall stature between groups of common causes of tall stature in children:Age(H=12,043,F=0.007),BMI SDS(H=53.880,P=0.000),BA(H=12.607,P=0.006)and BA-CA(H=18.956,P=0.000)were statistically significant(P<0.05),while Ht SDS was not statistically different(H=2.538,P>0.05).Further comparison between these two groups showed that there was a statistically significant difference in gender between the obese group and the precocious puberty group and the CAG group(P<0.05);Besides,there was a statistically significant difference in age,BA and BA-CA between the familial tall stature only and the rest of the groups(P<0.05),also a statistically significant difference in BMI SDS between the obese only and the rest of the groups(P<0.05).(2)Significant positive correlation between HT SDS and Ba-Ca was observed in obese tall stature children(P<0.05)and precocious puberty tall stature children(P<0.05).(3)After correcting for the effects of age and gender,multivariate regression analysis of Ht SDS and continuous variables in both precocious puberty and obese children with tall stature showed that Ht SDS was only associated with BA-CA(respectively,t=-2.468 and t=2.671,P<0.05).(4)IGF-1 level analysis of different causes of tall stature in children:The IGF-1 values of obese in girls with tall stature and<10 year old boys with tall stature,precocious puberty girls with tall stature,and CAG are between the mean and+2SD.While the IGF-1 values of>10 year old obese in boys with tall stature and family tall stature are between2SDS and the mean.There was not a consistent pattern among different causes of tall stature in children.4.Summary of clinical features of tall stature children with abnormal birth,development and appearance:Two children with Marfan syndrome were referred to our clinic with "rapid growth in height" and "thin body length with poor vision in both eyes." The height at presentation was more than 3SD the revised Ghent scores were all 7 points,and the refined genetic testing showed mutations in the FBN1 gene,leading to the final diagnosis of Marfan syndromet Meanwhile,one child with Sotos syndrome was referred with a "too fast growth in height" for height to exceed 3SD at presentation,and after admission,evaluation was consistent with the typical clinical presentation of Sotos syndrome,and refined genetic testing revealed a mutation in NSD1,which led to a final diagnosis of Sotos syndrome.5.Analysis of the consultation complaints of children with tall stature:Breast development accounted for the greatest proportion of consultation complaints(39.2%),followed by excessive growth(37.3%),while the remaining complaints related to endocrine diseases included pubic hair growth(7.0%),short penis(4.0%),enlarged neck(30%)and tall stature found during physical examination for other diseases(9.5%).6.Analysis of the trend of consultation of children with tall stature:The total number of high stature visits presented an increasing trend over time,featuring a sharp increase in 2020.The number of visits of tall stature children with obesity and precocious puberty plateaued between 2014 and 2020,and surged in 2020,showing a progressive increase.Tall stature children with CAG,familial tall stature and hyperthyroidism had appeared by 2020 and then showed a rapidly increasing trend.The birth,development,and appearance were abnormal in only 3 cases in this study and were scattered.The number of consultations increased abruptly in 2020,presenting an overall upward trend.Among those with normal birth,development and appearance,the number of visits for obesity and precocious puberty was stable until 2020,when it increased sharply and then showed an increasing trend.Conclusion1.Herein,this analysis reveal that the proportion of children with normal height stature in birth,development and appearance is much higher than that of excessive growth syndrome.Endocrine and metabolic factors such as obesity and precocious puberty are the main causes of tall stature in children.Obesity is firstly reported as the primary cause of tall children both domestically and internationally.2.Children voluntarily come to the hospital are almost before puberty,with more girls seeking medical attention.Familial tall stature seek medical attention in the preschool period,and their bone age matches their age.There are more males among the obesity tall children,and the degree of early bone age is positively correlated with that of height growth.Excessive bone age in children of tall stature with precocious puberty is not conducive to height growth,Besides,there is no consistency in serum IGF-1 levels among different reasons,indicating that IGF-1 is not the only cause of high body height in children.3.Children with abnormal birth,development and appearance were all of ultra-high stature,and genetic tests indicated excessive growth syndrome,confiming the importance of comprehensive genetic testing for ultra-high stature children. |
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