儿童身材矮小的病因分析及遗传学诊断

目的 探讨身材矮小患儿的病因分布及遗传学诊断。方法 回顾性分析86例身材矮小患儿的病因分布及临床特征。结果 86例身材矮小患儿中，病因有6种，以特发性矮小症（ISS，41%）和生长激素缺乏症（GHD，29%）最常见，遗传性疾病（14%）次之。将遗传性疾病组与ISS组、GHD组比较显示，各组患儿就诊年龄、身高、出生身长、出生体重、父母身高及胰岛素样生长因子1（IGF-1）水平差异均无统计学意义（P > 0.05），但遗传性疾病组身高距同年龄同性别个体身高第3百分位数的差值（ΔP3）和身高标准差评分（HtSDS）显著低于ISS组（P < 0.05），但与GHD组相比差异无统计学意义（P > 0.05）。对遗传性疾病组患儿的临床表现进行分析，显示不同遗传性疾病表型谱存在异质性及表型重叠性。结论 ISS、GHD和遗传性疾病是儿童身材矮小的主要病因。对存在严重身材矮小的患儿，在除外GHD外，有必要进一步行遗传学检查明确诊断。

Etiology and genetic diagnosis of short stature in children

Objective To study the etiology and genetic diagnosis of children with short stature. Methods A retrospective analysis was performed to study the etiological distribution and clinical features of 86 children with short stature. Results 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 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. Conclusions 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.