IGF-I and IGF Binding Protein-3 Generation Tests and Response to Growth Hormone in Children with Silver-Russell Syndrome

Izabel C R Beserra,Marília M Guimarães,Paulo F Collett-Solberg,Márcia G Ribeiro,Mário Vaisman

doi:10.1155/2010/546854

Abstract

Objectives. To evaluate, in children with Silver-Russell Syndrome, the response to the IGF-I and IGFBP-3 generation test and compare results to the growth response after 6 months of rhGH. Methods. Eight children (6 males), with a mean age of 5.71 ± 2.48 years and height SDS of −3.88 ± 1.28 received rhGH for 6 months. IGF-I and IGFBP-3 were analyzed before and after 4 doses of rhGH. Results. The mean growth velocity (GV) before treatment was 5.28 ± 1.9 cm/year. GV increased after rhGH in five children to a mean GV of 10.3 ± 3.64 cm/year. Six children had normal basal IGF-I levels and two low levels. After 4 doses of rhGH, the IGF-I levels were normal in seven. There was no correlation between the growth response and the IGF-I generation test. Conclusions. Children with SRS have normal IGF-I generation test. There is no correlation between the generation test and the growth velocity after 6 months of rhGH.

Highlights

Silver-Russell syndrome (SRS) was first described in 1953 by Silver et al [1]and in 1954 by Russell [2]
The number of patients in this study reflects the low incidence of SRS (3)
The male gender is predominant in this study (6 boys) as in the literature [35, 36] probably reflecting the predominance of males in the referral to Pediatric Endocrinologists due to short stature

Summary

Introduction

Silver-Russell syndrome (SRS) was first described in 1953 by Silver et al [1]and in 1954 by Russell [2]. Other authors subsequently confirmed the presence of these mutations with a high frequency (20– 63.8%) in patients with SRS [6] This region is associated with the regulation of many genes, such as tumor suppressor genes (H19) and the IGF-2 gene. SRS and Beckwith-Wiedemann syndrome are currently considered two diseases caused by opposite epigenetic alteration in the same chromosomal region (11p15) leading to different growth disorders [8,9,10]. This epigenetic defect can be involved in syndromic intrauterine growth retardation [5, 11].

Objectives

Methods

Conclusion