GHR-exon 3 genetic polymorphism in children with growth hormone deficiency

The effectiveness of the latest genetic technologies in advancing diagnosis growth hormone deficiency (GHD) and predicting response to recombinant human (rHGh) therapy has been insufficiently studied. polymorphism GHR-exon 3 considered as a possible predictor replacement therapy, but data obtained are contradictory. Purpose - identify allelic variants receptor gene (GHR-exon 3) children with GHD; relationship other potential clinical auxological predictors response. Materials methods. study was conducted at Odesa Regional Children’s Clinical Hospital Council. cohort GHD included 92 (69 boys 23 girls). Genotyping two alleles (d3 exon deletion; fl full-length gene) performed by method triprimer polymerase chain reaction. After determination genotype (d3/d3; d3/fl; fl/fl), were coded based on presence or absence d3 allele (d3-GHR, fl/fl-GHR, respectively). Results. Differences associated d3-GHR compared fl/fl-GHR found. In without prior treatment, is higher rates «growth baseline (SDS)», (SDS) target (SDS)» stimulates an additional increase rate 2.2 cm first year therapy. results second rHGh treatment did not reveal similar pattern Taking into account increases sensitivity accuracy mathematical model for GHD. Conclusions. better second. research carried out accordance principles Helsinki Declaration. protocol approved Local Ethics Committee participating institution. informed consent patient conducting studies. No conflict interests declared authors.