ESPE Abstracts

Objective: Silver-Russell syndrome (SRS) is a rare imprinting disorder characterized by growth retardation, advanced puberty and poor pubertal growth spurt leading to short stature. Our aimfor this study was to assess the use of a combined treatment with recombinant human Growth Hormone (rhGH) and Gonadotropin-releasing hormone analog (GnRHa) in patients with SRS followed in the French National Reference Centre, regarding adult height (AH) and tolerance outcomes.

Patients and Methods: It was a retrospective observational study, including patients with molecularly confirmed SRS, aged 14 years and over who received rhGH and GnRHa. We collected data on birth parameters, height and weight at start of rhGH, start and end of GnRHa, bone age and adult height if completed.

Results: Forty-two patients were analyzed. Median age at start of rhGH was 3.9 years (2.8;5.6). Median age at start of GnRHa was 10.0 years (9.3;11.0). AH was completed for 22 patients (52.3%) and median AH was -1.9 standard deviation score (SDS) (-2.4;-1.3). There was no difference in AH for girls -2.1 (-2.4;-1.9) and boys -1.5 (-1.9;-1.2). Total height gain was 26.2 cm (22.0;30.7). Tolerance was rather good, and few adverse effects were considered drug-related.

Conclusion: A combined treatment of rhGH and GnRHa in patients with SRS allows a normal AH for half of our patients and appears to be safe in this population. We are waiting for the rest of the cohort to complete AH but height at last visit is promising, especially for boys.