胰岛素样生长因子-1受体基因变异与矮身材的研究进展

Study progress of insulin-like growth factor receptor type 1 gene mutation and short stature

胰岛素样生长因子-1受体（IGF-1R）是下丘脑-垂体-生长激素轴IGF信号通路的受体级联效应分子.近年来,国外IGF-1R基因突变矮身材报道逐年增多,现将IGF-1R基因缺陷与矮身材的研究进展总结如下,以期引起临床医师的重视。

Insulin-like growth factor receptor type 1 （IGF-1R） is the receptor eascade effect molecules of IGF signaling pathways in the hypothalamus-pituitary-growth hormone axis. In recent years,IGF-1R gene mutation of short stature case reports increased year by year,now the progress of IGF-1R gene defects in short stature for clinicians was summarized.