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Submitted on January 11, 2006
Accepted on July 7, 2006
Eli Lilly and Company, Bad Homburg, Germany; University Hospital for Children and Adolescents, Leipzig, Germany; Inserm U.654, Créteil, France; Pharma Support Inc., St. Petersburg, Russia
* To whom correspondence should be addressed. E-mail: blum_werner{at}lilly.com.
Context: A variant of the human GH receptor (GHR) lacks a 22-amino acid sequence derived from exon 3 (d3-GHR). It was reported that pediatric patients, born small for gestational age (SGA) or with idiopathic short stature (ISS), who were homozygous or heterozygous for this variant responded better to GH treatment than those homozygous for the full-length allele (fl-GHR).
Objective: To study the impact of the GHR genotype on the phenotype and growth response in patients with isolated GH deficiency (IGHD) treated with GH.
Design: Retrospective multinational, multicenter observational study.
Patients: Patients with IGHD (n = 107) were recruited.
Interventions: All patients received GH treatment at replacement doses. The GHR genotype (fl-GHR/fl-GHR, fl-GHR/d3-GHR or d3-GHR/d3-GHR) was determined by PCR amplification.
Main Outcome Measures: Height SD score (SDS), height velocity, height velocity SDS at baseline, at one year of GH treatment and their changes.
Results: There was no statistically significant difference of the main outcome measures between patients with the d3-GHR allele (n = 48) and patients who were homozygous for the fl-GHR allele (n = 59). Moreover, the genotype group did not contribute significantly to the growth prediction in multiple linear regression models.
Conclusions: Our results indicate that the d3-GHR allele does not affect response to GH treatment or contribute to growth predictions in patients with IGHD who received replacement doses of GH aiming to restore a normal GH status. We did not confirm the previously reported data obtained in patients with SGA or ISS who received supraphysiological GH doses.
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