Department of Pediatrics, Ain Shams University, Cairo, Egypt.
Horm Res Paediatr. 2011;76(5):300-6. doi: 10.1159/000330191. Epub 2011 Aug 13.
BACKGROUND/AIMS: It was hypothesized that some children with idiopathic short stature (ISS) may have partial insensitivity to growth hormone (GH). In this study analysis of the GH/IGF-I axis as well as GH receptor (GHR) gene was done in children with ISS to determine the possible underlying factor(s) to their short stature.
Forty-eight patients with a diagnosis of ISS were studied; 33 boys and 15 girls aged 13.6 ± 3.7 years. Molecular analysis of the GHR was performed and GH sensitivity was tested by the IGF-I generation test.
Basal IGF-I levels were <-2 SD in 22.9%, and 53.5% showed an IGF-I response below 40% (0-38%) to GH stimulation. GH-binding protein (GHBP) levels were below the normative mean in almost all patients. Mutations in the region of the GHR gene that codes for the extracellular domain of the receptor were found in 15.5%; one newly described mutation was recorded.
With the possible exception of the novel G62V mutation, functional studies of the other 2 heterozygous mutations found in 6 of our patients are needed in order to prove their impact on short stature.
背景/目的：有人假设，一些特发性身材矮小（ISS）的儿童可能对生长激素（GH）有部分不敏感。在这项研究中，对 ISS 儿童的 GH/IGF-I 轴以及 GH 受体（GHR）基因进行了分析，以确定导致其身材矮小的潜在因素。
研究了 48 例确诊为 ISS 的患者；男 33 例，女 15 例，年龄 13.6±3.7 岁。对 GHR 进行了分子分析，并通过 IGF-I 生成试验测试了 GH 的敏感性。
基础 IGF-I 水平<-2SD 占 22.9%，53.5%的患者对 GH 刺激的 IGF-I 反应低于 40%（0-38%）。几乎所有患者的 GH 结合蛋白（GHBP）水平均低于正常均值。在 15.5%的患者中发现了 GHR 基因编码受体细胞外结构域的区域突变；记录到一种新描述的突变。
除了新发现的 G62V 突变外，可能需要对我们的 6 名患者中发现的其他 2 种杂合突变进行功能研究，以证明它们对矮小身材的影响。
