The growth hormone receptor exon 3-deleted/full-length polymorphism and response to growth hormone therapy in prepubertal idiopathic short children.

•The impact of GHR genotype in prepubertal, idiopathic short children.•A tendency towards later transition from infancy to childhood growth in children homozygous for exon 3-deleted GHR.•Higher levels of IGFBP-3 in GHR exon 3-deleted homo- and heterozygotes.•No difference between GHR exon 3 genotypes in metabolic response to GH treatment.•No difference between GHR exon 3 genotypes in growth response to GH treatment.