Chen Wei-Wei, Liu Huan-Xin, Liu Jing, Yang Lin-Lin, Liu Min, Ma Hui-Juan
Graduate School of Hebei Medical University, Shijiazhuang 050017, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2019 Apr;21(4):381-386. doi: 10.7499/j.issn.1008-8830.2019.04.015.
To study the etiology and genetic diagnosis of children with short stature.
A retrospective analysis was performed to study the etiological distribution and clinical features of 86 children with short stature.
A total of 6 causes were observed in these children, among which idiopathic short stature (ISS, 41%) and growth hormone deficiency (GHD, 29%) were the most common causes, followed by genetic diseases (14%). There were no significant differences in age at the time of diagnosis, body height, body length and weight at birth, body height of parents and insulin-like growth factor-1 levels between the genetic disease group and the ISS/GHD groups (P>0.05). Compared with the ISS group, the genetic disease group had significantly lower deviation from the 3rd percentile for the height of children of the same age and sex (ΔP3) and height standard deviation score (P<0.05), while there were no significant differences between the genetic disease and GHD groups (P>0.05). The analysis of the clinical manifestations for the genetic disease group showed heterogeneity and phenotypic overlap in children with different genetic diseases.
ISS, GHD and genetic diseases are major causes of short stature in children. For children with severe short stature, genetic testing should be performed to make a definitive diagnosis after GHD has been excluded.
研究身材矮小儿童的病因及基因诊断。
对86例身材矮小儿童的病因分布及临床特征进行回顾性分析。
这些儿童共观察到6种病因，其中特发性身材矮小（ISS，41%）和生长激素缺乏症（GHD，29%）是最常见的病因，其次是遗传疾病（14%）。遗传疾病组与ISS/GHD组在诊断时的年龄、出生时的身高、身长和体重、父母身高以及胰岛素样生长因子-1水平方面无显著差异（P>0.05）。与ISS组相比，遗传疾病组同年龄、同性别的儿童身高低于第3百分位数的差值（ΔP3）和身高标准差评分显著更低（P<0.05），而遗传疾病组与GHD组之间无显著差异（P>0.05）。遗传疾病组的临床表现分析显示，不同遗传疾病患儿存在异质性和表型重叠。
ISS、GHD和遗传疾病是儿童身材矮小的主要原因。对于严重身材矮小的儿童，应在排除GHD后进行基因检测以明确诊断。
