Mamat Mireguli
Pediatric Center, First Affiliated Hospital of Xinjiang Medical University, Urumqi 830054, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2024 Dec 15;26(12):1255-1260. doi: 10.7499/j.issn.1008-8830.2408040.
Idiopathic short stature (ISS) is a term that encompasses a group of short stature disorders with unknown etiology. The genetic factors associated with ISS are complex, and the known genetic mechanisms include alterations in hormones, hormone receptors, or related pathways, defects in fundamental cellular processes (such as intracellular signaling pathways and transcriptional regulation), issues with extracellular matrix or paracrine signaling, as well as genetic variations in the genes encoding these proteins. Recombinant human growth hormone (rhGH) therapy is currently an effective clinical method for improving height in children with ISS. However, the efficacy of rhGH treatment on ISS varies among children with different genetic mechanisms. This paper analyzes and elucidates the genetic mechanisms of ISS and the effects of rhGH on ISS based on existing clinical research, aiming to enhance the understanding of ISS and provide references for improving the height of these children.
特发性矮小(ISS)是一个涵盖病因不明的一组矮小症疾病的术语。与ISS相关的遗传因素很复杂,已知的遗传机制包括激素、激素受体或相关信号通路的改变,基本细胞过程(如细胞内信号通路和转录调控)的缺陷,细胞外基质或旁分泌信号的问题,以及编码这些蛋白质的基因中的遗传变异。重组人生长激素(rhGH)治疗目前是改善ISS儿童身高的一种有效临床方法。然而,rhGH治疗对ISS的疗效在具有不同遗传机制的儿童中有所不同。本文基于现有的临床研究分析并阐明了ISS的遗传机制以及rhGH对ISS的影响,旨在加深对ISS的理解,并为提高这些儿童的身高提供参考。