Background: The GHR-exon3 and the -202 A/C IGFBP3 polymorphisms have been suggested to affect responses to recombinant human GH (rhGH) therapy in some individuals with short stature. This study aimed to assess the influences of the two polymorphisms on treatment outcomes in patients with GH deficiency (GHD).
Method: In 72 (32 girls and 40 boys) children with confirmed diagnosis of GHD, genotyping and serial measurements of auxological and endocrinologicalparameters were performed. Forty-nine patients who remained in the prepubertalstate after 1 year of GH treatment were analyzed.
Results: Distribution of the GHR-exon3 genotypes was as follows: d3/d3 genotype 2.8%; d3/fl genotype 15.3%; and fl/fl genotype 81.9%. Frequencies of the -202 A/C IGFBP3 genotypes were as follow: A/A genotype 55.5%; A/C genotype 38.9%; and C/C genotype 5.6%. In comparing the d3/d3 and d3/fl group with the fl/fl group, there was no significant difference in first-year height velocity (9.4±2.2 vs 8.1±1.7 cm, P=0.08). Likewise, comparing the A/A group with the A/C and C/C group, no significant difference was observed in height velocity (8.3±2.0, 8.3±1.7 cm, P=0.97). Combined analysis of the two polymorphisms showed no significant interaction on the first year height velocity.
Conclusion: Our results suggest that the two polymorphisms are not major factors in the modulation of interindividual growth response to GH therapy in Korean children with GHD. Keywords: GH deficiency, growth hormone receptor, insulin-like growth factor binding protein 3, polymorphism
10 - 12 Sep 2016
European Society for Paediatric Endocrinology