ESPE Abstracts

Objective: Silver-Russell syndrome (SRS) is an imprinting disorder characterized by severe intrauterine and postnatal growth retardation and feeding difficulties. Patients can benefit from recombinant growth hormone (rGH) therapy which has shown its positive effect on adult height. Our objective was to assess the short-term effects of rGH therapy on growth and nutritional status in prepubertal patients with SRS.

Design: Retrospective analysis of growth and nutritional features in molecularly proven SRS patients during the first two years of rGH therapy.

Methods: Data from 64 prepubertal SRS patients with either loss of methylation in the 11p15 IGF2/H19 region (LOM 11p15, n = 51, 80%) or maternal uniparental disomy of chromosome 7 (upd(7)mat, n = 13, 20%) were analyzed.

Results: The mean age of patients at rGH therapy onset was 3.6 (1.3;7.5) years. The mean height gain was 0.9 (0.0;3.4) standard deviation score (SDS) after one year of treatment (P < 0.0001) and 1.3 (0.4;4.8) SDS after two years (P < 0.0001). The ideal weight for length/height (WfH), reflecting the nutritional status, increased from 81% (62;100) at rGH onset, to 84% (67;103) after one year of treatment (P = 0.044) and to 87% (69;108) after two years (P = 0.044). The proportion of SRS patients above the targeted WfH of 85% increased from 25.4% at rGH therapy onset to 61.7% after two years of treatment (P < 0.0001). When comparing the WfH evolution between patient with rGH therapy onset before and after the age of 4 years, we identified a better gain between after one (P = 0.009) and two years (P = 0.011) in patients with an earlier rGH start.

Conclusion: In prepubertal patients with SRS, the first two years of rGH therapy at standard doses improve both height and nutritional status. Gain weight must be closely monitored and controlled in these first years of rGH treatment. Further studies to precisely assess body composition in these patients and the rGH impact are needed. Our data suggested a better impact on nutritional status if rGH therapy is started before 4 years of age.