特发性矮身材患儿的遗传机制及生长激素疗效探讨

doi:10.7499/j.issn.1008-8830.2408040

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Abstract 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.

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	MAMAT Mireguli

Key words： Idiopathic short stature Genetic variation Recombinant human growth hormone Child

Received: 08 August 2024

Corresponding Authors: (Email: milikita17@aliyun.com) E-mail: milikita17@aliyun.com

Cite this article:

MAMAT Mireguli. Discussion on the genetic mechanisms and efficacy of growth hormone therapy in children with idiopathic short stature[J]. CJCP, 2024, 26(12): 1255-1260.

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http://www.zgddek.com/EN/10.7499/j.issn.1008-8830.2408040 OR http://www.zgddek.com/EN/Y2024/V26/I12/1255

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