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Submitted on June 14, 2005
Accepted on December 21, 2005
Department of Paediatrics (A.P., M.F., B.F., L.D.N., F.B.); Institute of Molecular Medicine "A. Nocivelli" (P.M.) and Section of Medical Statistics (G.P.), University of Brescia, Brescia, Italy
* To whom correspondence should be addressed. E-mail: fbuzi{at}med.unibs.it.
Context: GH acts through the GH receptor (GHR), whose polymorphisms might affect the growth response to rhGH.
Objective: To investigate possible influences of GHR polymorphisms on the growth response to rhGH in GH deficient (GHD) children.
Design: Two-year study: 1st year: spontaneous growth; 2nd year: growth under rhGH.
Setting: Referral Center.
Patients: 54 prepubertal GHD children (11 females) (mean age 7.8 yr; SD 3.96).
Intervention: patients were treated with rhGH (0.2 mg/kg/week) for at least one year after diagnosis;. GV was measured 1 yr pre-treatment and during the first treatment year. GHR exons were amplified by PCR using pairs of intronic primers. The presence of single or multiple mismatches in the PCR products was revealed by DHPLC. For exons in which mismatches were found by DHPLC, direct sequencing was performed by automatic sequencer.
Main Outcome Measures: before treatment start, mean height (Ht) SDS was -1.93 (SD 0.70) and mean GVSDS -1.49 (SD 1.26).
Results: Post-treatment (first 12 months) mean GVSDS was 3.55 (SD 3.27). Molecular analysis revealed a high frequency of GHR polymorphisms, and in particular: Exon 3 deletion (Del 3) in 26 subjects (48%); Polymorphism 504 A>G at codon 168 of exon 6 in 44 (82%); Polymorphism 1576 A>C at codon 526 of exon 10 in 35 (65%). In most patients these different polymorphisms recurred in association. We found no significant differences in GV between the groups of subjects defined by the polymorphic genotypes.
Conclusion: the most common GHR polymorphisms, alone or in association, do not appear to affect the growth response to rhGH in GHD children.
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