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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。
Short stature in the endocrine system diseases and even pediatric diseases are relatively rare. The causes of short stature complex and diverse cause of the constitution is roughly the same, the top five causes are: growth hormone deficiency, delayed physical puberty, familial short stature, intrauterine growth retardation, hypothyroidism. Some short stature also has a genetic change, the majority of genetic mutations lead to, such as: growth hormone deficiency and achondroplasia, but also chromosomal abnormalities, such as: congenital ovarian hypoplasia. This article reviews the current status of various causes and genetics changes in STDs at home and abroad, and analyzes the genetic changes of related diseases.