Mutations Of The Growth Hormone Receptor (GHR) Gene In Children With Non-growth-hormone Deficiency And Marked Short Stature

Objectives: Homozygous or compound heterozygous mutations in the growth hormone receptor (GHR) gene result in Laron Syndrome (LS) with complete GH insensitivity (GHI). Recent reports have showed that some heterozygous mutations may induce a partial insensitivity to GH in children with idiopathic short stature (ISS), but others appear to have limited effect on growth. In this study we analyzed the serum levels of insulin-like growth factor I, insulin-like growth factor binding protein (IGF-I and IGFBP3) and the GHR gene in children with non-growth-hormone deficiency and marked short stature, so that we further testified the above observations in Chinese children, then obtained the clinical and biochemical, molecular features of children with mutate GHR gene.Methods: According to our inclusion criteria, total 47 children with non-growth-hormone deficiency and marked short stature were selected from patients seen in the clinic, including a girl with Laron Syndrome and 46 children with idiopathic short stature. â‘  Plasma concentrations of IGF-I and IGFBP3 were measured by radio-immunoassay so that we can testify partial growth hormone insensitivity (PGHI) in some children. â‘¡ Analysis of Polymerase Chain Reaction-Single Strand Conformation Polymorphism (PCR-SSCP) and DNA direct sequencing were both used to identify mutation in the GHR gene. â‘¢. Again with...