ESPE2014 Poster Category 3 Growth (1) (13 abstracts)
Correlation Between Initial Treatment Effect of Recombinant Human GH and Exon 3 Polymorphism of GH Receptor in Chinese GH Deficiency Children
Zhangqian Zheng a , Linfeng Cao b , Zhou Pei a , Feihong Luo a , Dijing Zhi a , Zhuhui Zhao a , Rong Ye a , Ruoqian Cheng a & Xiaojing Li a
aChildren’s Hospital of Fudan University, Shanghai, China; bInstitute of Pediatrics of Fudan University, Shanghai, China
Objective and hypotheses: To investigate the frequency distribution of exon 3 deleted (d3-GHR) genetic polymorphism of GH receptor (GHR) in GH deficient (GHD) Chinese children and to explore the correlation between the growth promoting effects of recombinant human GH (rhGH) and exon 3 genetic polymorphism of GHR in GHD children.
Method: 111 GHD (excluded small for gestational age) children were treated with rhGH (0.20 mg/kg per week) for 6 months. The body height (Ht), body weight, bone age (BA) and growth velocity (GV) were measured before and after 6 months of treatment. The d3-GHR and full length GHR (fl-GHR) were analyzed to detect the frequency distribution of two isoforms and their influence on growth promoting effect of rhGH.
Results: The frequencies of fl/fl, fl/d3 and d3/d3 GHR genotypes were 67.6, 18.9 and 13.5%. After 6 months of GH therapy, there were significant differences of ΔGV (ΔGV: 10.77±3.40 vs 12.18±3.08 cm/year) (P<0.05) and ΔHt (ΔHt: 5.38±1.70 vs 6.09±1.54 cm) (P<0.05) were found among GHD children with different genotypes (fl/fl vs fl/d3 and d3/d3).
Conclusion: The frequencies of fl/fl, fl/d3 and d3/d3 GHR genotypes were 67.6, 18.9 and 13.5%. After 6 months of GH therapy, there were significant differences of ΔGV (ΔGV: 10.77±3.40 vs 12.18±3.08 cm/year) (P<0.05) and ΔHt (ΔHt: 5.38±1.70 vs 6.09±1.54 cm) (P<0.05) were found among GHD children with different genotypes (fl/fl vs fl/d3 and d3/d3).
Volume 82
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