Endocrine Abstracts

Carriage of the exon 3 deletion in the GH receptor (GHR) gene has been reported to enhance growth response to GH therapy. JAK2 and PI3K are involved in signal transduction from the GH (JAK2/PI3K) and IGF1 (PI3K) receptors. We have investigated whether a single nucleotide polymorphism within these genes influences growth response to GH therapy. DNA was taken, with ethical approval, from 104 children treated with GH therapy. Diagnoses were: GHD (n=44), TS (n=23), S...

Carriage of the exon 3 deletion in the GH receptor (GHR) gene has been reported to enhance growth response to GH therapy in a range of conditions. JAK2 and PI3Kinase are involved in signal transduction from the GH (JAK2/PI3Kinase) and IGF-1 (PI3Kinase) receptors. We have investigated whether single nucleotide polymorphisms within these genes influence growth response to GH therapy. DNA was taken, with ethical approval, from 97 children treated with GH therapy in a single growt...

Background: A polymorphism of the GHR gene, deletion of exon 3 (d3 GHR), has been associated with improved growth response to GH in some studies. We investigated the effect of this polymorphism across several diagnoses, evaluating parameters of growth outcome from a single institution (Manchester) and combined these with those derived from the literature using meta-analytical approaches.Methods: GHR genotype was assessed by PCR and related to clinical an...