Chernausek S D
University of Cincinnati School of Medicine, Ohio, USA.
J Endocrinol Invest. 2006;29(1 Suppl):16-20.
About 5% of newborns are small for gestational age (SGA) and 10-15% of them do not naturally catch up on growth by 2 yr of age. The growth of the fetus from conception to birth results from complex interactions of maternal and fetal genes with the environment, and factors such as malnutrition are well known to influence fetal growth. Specific genetic disorders such as Leprechaunism, Bloom syndrome, Fanconi anemia are inherited, but are very rare causes of intrauterine growth retardation. Recent published research on the actions of IGF-I in humans and the phenotypes of children with genetic defects in the GH/IGF axis establish IGF-I signaling via its receptor (IGF-IR) as the critical growth-controlling element in man. The aim of this article is to review certain SGA disorders of Mendelian genetic origin, with an emphasis on defects in the insulin and IGF pathways which may be implicated in the persistence of short stature in some children born SGA.
约5%的新生儿为小于胎龄儿（SGA），其中10 - 15%在2岁时未能自然实现生长追赶。胎儿从受孕到出生的生长是母体和胎儿基因与环境复杂相互作用的结果，众所周知，营养不良等因素会影响胎儿生长。特定的遗传疾病，如拉普-伦德尔综合征、布卢姆综合征、范可尼贫血等是遗传性的，但它们是宫内生长迟缓非常罕见的原因。最近发表的关于IGF-I在人类中的作用以及生长激素/IGF轴存在基因缺陷的儿童表型的研究表明，IGF-I通过其受体（IGF-IR）发出信号是人类关键的生长控制要素。本文旨在综述某些孟德尔遗传起源的SGA疾病，重点关注胰岛素和IGF途径中的缺陷，这些缺陷可能与一些SGA出生儿童身材矮小的持续存在有关。
