单纯性生长激素缺乏症的遗传学病因研究进展  

Advances in genetic etiology of isolated growth hormone deficiency

作　　者：吴婷婷(综述) 张星星(审校)[1] Wu Tingting;Zhang Xingxing(Department of Pediatrics,the Second Xiangya Hospital,Central South University,Changsha 410011,China)

机构地区：[1]中南大学湘雅二医院儿科,长沙410011

出　　处：《国际儿科学杂志》2023年第7期464-467,共4页International Journal of Pediatrics

基　　金：湖南省自然科学基金(2021JJ70137)。

摘　　要：单纯性生长激素缺乏症(isolated growth hormone deficiency,IGHD)是以身材矮小为特点的一种生长发育障碍性疾病。IGHD的病因及发病机制仍不完全明确,先天性[遗传和(或)与畸形有关]或获得性(肿瘤、身体创伤、炎症、脑部感染或放射治疗)因素均可导致IGHD。在其遗传病因中最常见的基因突变发生在编码生长激素(GH1)和生长激素释放激素受体(GHRHR)的基因。罕见情况下转录因子(如HESX1、SOX3、OTX2、POU1F1等)突变可以导致IGHD,IGHD相关基因突变的疾病表型高度可变。近年来有关IGHD致病基因的研究在不断增加,正确诊断及尽早治疗对于IGHD患者的长期预后至关重要。该文综述了近年来IGHD的基因突变、疾病表型等方面的研究进展。Isolated growth hormone deficiency(IGHD)is a growth disorder characterized by short stature.The etiology and pathogenesis of IGHD are still not fully understood.IGHD can be caused by congenital(heredity and/or malformations)or acquired(tumors,physical trauma,inflammation,brain infections,or radiation therapy)factors.The most common genes in its genetic etiology are the growth hormone 1(GH1)and growth hormone-releasing hormone receptor(GHRHR).In rare cases,IGHD may be caused by mutations in transcription factors such as HESX1,SOX3,OTX2,POU1F1,etc.The disease phenotype of IGHD patients is highly variable.Correct diagnosis and early treatment are crucial for the long-term prognosis of IGHD patients.This review mainly discusses advance of IGHD gene mutation and disease phenotype.

关 键 词：生长激素 GHRH受体 突变 矮小 

分 类 号：R725.8[医药卫生—儿科]