Advances in genetic etiology of isolated growth hormone deficiency / 国际儿科学杂志

ABSTRACT

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.