Assessment of Combined Growth Hormone and Gonadotropin-Releasing Hormone Analogue Treatment in Children with Silver-Russell Syndrome.

INTRODUCTION

Silver-Russell syndrome (SRS) is a rare imprinting disorder characterized by growth retardation, early puberty, and poor pubertal growth, leading to short stature. We aimed to assess the outcome in terms of adult height (AH) and tolerance of combined treatment with recombinant human growth hormone (rhGH) and a gonadotropin-releasing hormone analogue (GnRHa) for children with SRS followed in a reference centre for rare disorders in France.

METHODS

This was a retrospective observational study that included children with molecularly confirmed SRS, aged 14 years and over, and who received rhGH and GnRHa. We collected data on birth parameters, height and weight at the start of rhGH and at the start and end of GnRHa, bone age, and AH, if reached.

RESULTS

Thirty-nine children (17 girls and 22 boys) were analysed. The median age at the start of rhGH was 3.9 years (2.8-5.0) and that at the start of GnRHa was 10.0 years (9.3-11.0). AH was reached for 30 patients (76.9%), with a median AH standard deviation score (SDS) of -1.8 (-2.4 to -1.1). There was no difference in AH between girls -2.1 SDS (-2.4 to -1.5) and boys -1.4 SDS (-1.9 to -1.2). Median pubertal height gain was 26.0 cm (23.0-29.0) for girls and 30.0 cm (28.0-34.0) for boys. Tolerance was good, and there were few drug-related adverse effects.

CONCLUSION

Combined treatment with rhGH and GnRHa for children with SRS resulted in AH within standard references for more than half of our cohort and appears to be safe in this population.