矮小症的病因与遗传学现状

矮小症在内分泌系统疾病乃至儿科疾病中都相对少见。而导致矮小症的病因复杂多样,病因构成比大致相仿,前5位病因为：生长激素缺乏症、体质性青春期延迟、家族性矮小、宫内发育迟缓、甲状腺功能减低。一些矮小症还具有遗传学方面的改变,多数为基因突变导致,如：生长激素缺乏症和软骨发育不全,也有染色体畸形,如：先天性卵巢发育不全。本文就目前国内外对矮小症的多种病因及其遗传学变化现状进行综述,分析相关疾病的遗传学改变。

The Present situation of pathogenesis and genetics of short stature

The short stature in the endocrine system disease and even in pediatrics disease are relatively rare.But there are many kinds of complicated diseases leading to short stature,the constituent ratio of these diseases is more or less the same,the top five is: growth hormone deficiency,constitutimal delay of puberty,genetic short stature,intrauterine growth retardation;primary hypothyroidism.Some short statures have genetic chances,the great majority are due to genetic mutations,such as: growth hormone deficiency and achondroplasia;there is also chromosomal abnormalities,such as: Turner Syndrome.This paper is to summarize present domestic and overseas situation of the causes and genetic chances of short stature,and analyse genetic mutations of relative diseases.