Growth hormone therapy for children with KBG syndrome:A case report and review of literature  

作　　者：Xiu-Ying Ge Long Ge Wen-Wen Hu Xiao-Ling Li Yan-Yan Hu 

机构地区：[1]Department of Child Health,Maternal and Child Health Hospital of Linyi,Linyi 276000,Shandong Province,China [2]Department of Clinical Laboratory,Linyi People’s Hospital,Linyi 276000,Shandong Province,China [3]Department of Pediatrics,The People's Hospital of Lanshan District,Linyi 276000,Shandong Province,China [4]Department of Pediatrics,Linyi People’s Hospital,Linyi 276000,Shandong Province,China

出　　处：《World Journal of Clinical Cases》2020年第6期1172-1179,共8页世界临床病例杂志

摘　　要：BACKGROUND The incidence of short stature in KBG syndrome is relatively high.Data on the therapeutic effects of growth hormone(GH)on children with KBG syndrome accompanied by short stature in the previous literature has not been summarized.CASE SUMMARY Here we studied a girl with KBG syndrome and collected the data of children with KBG syndrome accompanied by short stature from previous studies before and after GH therapy.The girl was referred to our department because of short stature.Physical examination revealed mild dysmorphic features.The peak GH responses to arginine and clonidine were 6.22 and 5.40 ng/mL,respectively.The level of insulin-like growth factor 1(IGF-1)was 42.0 ng/mL.Genetic analysis showed a c.2635 dupG(p.Glu879fs)mutation in the ANKRD11 gene.She received GH therapy.During the first year of GH therapy,her height increased by 0.92 standard deviation score(SDS).Her height increased from-1.95 SDS to-0.70 SDS after two years of GH therapy.There were ten children with KBG syndrome accompanied by short stature who received GH therapy in reported cases.Height SDS was improved in nine(9/10)of them.The mean height SDS in five children with KBG syndrome accompanied by short stature increased from-2.72±0.44 to-1.95±0.57 after the first year of GH therapy(P=0.001).There were no adverse reactions reported after GH treatment.CONCLUSION GH treatment is effective in our girl and most children with KBG syndrome accompanied by short stature during the first year of therapy.BACKGROUND The incidence of short stature in KBG syndrome is relatively high.Data on the therapeutic effects of growth hormone (GH) on children with KBG syndrome accompanied by short stature in the previous literature has not been summarized.CASE SUMMARY Here we studied a girl with KBG syndrome and collected the data of children with KBG syndrome accompanied by short stature from previous studies before and after GH therapy.The girl was referred to our department because of short stature.Physical examination revealed mild dysmorphic features.The peak GH responses to arginine and clonidine were 6.22 and 5.40 ng/mL,respectively.The level of insulin-like growth factor 1 (IGF-1) was 42.0 ng/mL.Genetic analysis showed a c.2635 dupG (p.Glu879fs) mutation in the ANKRD11 gene.She received GH therapy.During the first year of GH therapy,her height increased by 0.92standard deviation score (SDS).Her height increased from-1.95 SDS to-0.70 SDS after two years of GH therapy.There were ten children with KBG syndrome accompanied by short stature who received GH therapy in reported cases.Height SDS was improved in nine (9/10) of them.The mean height SDS in five children with KBG syndrome accompanied by short stature increased from -2.72±0.44 to -1.95±0.57 after the first year of GH therapy (P=0.001).There were no adverse reactions reported after GH treatment.CONCLUSIONGH treatment is effective in our girl and most children with KBG syndrome accompanied by short stature during the first year of therapy.

关 键 词：Growth HORMONE THERAPY KBG SYNDROME ANKRD11 gene SHORT STATURE CHILDREN Case report 

分 类 号：R725.9[医药卫生—儿科]