Ge Xiu-Ying, Ge Long, Hu Wen-Wen, Li Xiao-Ling, Hu Yan-Yan
Department of Child Health, Maternal and Child Health Hospital of Linyi, Linyi 276000, Shandong Province, China.
Department of Clinical Laboratory, Linyi People's Hospital, Linyi 276000, Shandong Province, China.
World J Clin Cases. 2020 Mar 26;8(6):1172-1179. doi: 10.12998/wjcc.v8.i6.1172.
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.
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 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 ( = 0.001). There were no adverse reactions reported after GH treatment.
GH treatment is effective in our girl and most children with KBG syndrome accompanied by short stature during the first year of therapy.
KBG综合征患儿身材矮小的发生率相对较高。既往文献中尚未对生长激素（GH）治疗KBG综合征伴身材矮小患儿的疗效数据进行总结。
我们对一名KBG综合征女童进行了研究，并收集了既往研究中KBG综合征伴身材矮小患儿在GH治疗前后的数据。该女童因身材矮小转诊至我科。体格检查发现有轻度畸形特征。精氨酸和可乐定刺激后GH峰值反应分别为6.22和5.40 ng/mL。胰岛素样生长因子1（IGF-1）水平为42.0 ng/mL。基因分析显示该基因存在c.2635 dupG（p.Glu879fs）突变。她接受了GH治疗。在GH治疗的第一年，她的身高增加了0.92标准差评分（SDS）。经过两年的GH治疗，她的身高从-1.95 SDS增加到-0.70 SDS。在已报道的病例中，有10名KBG综合征伴身材矮小的患儿接受了GH治疗。其中9名（9/10）患儿的身高SDS有所改善。5名KBG综合征伴身材矮小患儿在GH治疗的第一年，平均身高SDS从-2.72±0.44增加到-1.95±0.57（P = 0.001）。GH治疗后未报告有不良反应。
GH治疗对我们的这名女童以及大多数KBG综合征伴身材矮小的患儿在治疗的第一年是有效的。
