Endocrine Abstracts

Introduction: Human recombinant growth hormone (hrGH) treatment in adult patients with GH deficiency (GHD) has an important interindividual variability and several factors can influence it. The aims of the study were: i)- to analyze the genotype of GHR regarding exon 3 deletion (d3-GHR) in a serie of adult patients with GHD; ii)- to assess the effect of d3-GHR on initial IGF1 levels; iii)- to evaluate if d3-GHR and/or initial IGF1 levels were associated with adverse effects and/or treatment discontinuation.

Methods: Retrospective study, including 44 patients with adult GHD. Demographic, clinical and biochemical characteristics were evaluated at baseline, at month 6 and 1 and 3 years after hrGH treatment initiation. The d3-GHR was analyzed in 35 patients.

Results: A 37.1% of patients were d3-GHR carriers (31.4% heterozygous) and this situation was not related with IGF1 at baseline. We did not find a significant association between d3-GHR allele and baseline IGF1 (P=0.14). Adverse events were more frequent in d3-GHR carriers (30.7 vs 18.2% in fl/fl) and in patients with normal IGF1 at diagnosis (43.7 vs 17.8% in patients with low IGF1), but this assotiation was not statistical significant. The d3-GHR status was not related with the incidence of adverse events (P=0.4) or treatment discontinuation (P=0.47). The baseline IGF1 level was neither associated with the development of adverse events (P=0.08) nor treatment discontinuation (P=0.75).

Conclusions: In our series, the presence of d3-GHR allele was not related with baseline level of IGF1. Neither d3-GHR nor baseline IGF1 level was related with adverse events or treatment discontinuation.