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CLINICAL STUDY |
1 Université Paris-Sud 11, Faculté de Médecine Paris-Sud, UMR-S693, Le Kremlin Bicêtre F-94276, France2 Assistance Publique-Hôpitaux de Paris, Hôpital de Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, 78 rue du Général Leclerc, Le Kremlin Bicêtre F-94275, France3 INSERM, U693, Le Kremlin Bicêtre F-94276, France4 INSERM, U561, Paris F-75014, France5 Université Pierre et Marie Curie-Paris 6, Paris F-75012, France6 Assistance Publique-Hôpitaux de Paris, Hôpital Armand-Trousseau, Explorations Fonctionnelles Endocriniennes, Paris F-75012, France7 INSERM, U515, Paris F-75012, France8 Assistance Publique-Hôpitaux de Paris, Hôpital Henri Mondor, Service de Pharmacologie Clinique et Unité de Recherche Clinique, Créteil F-94010, France9 Université Paris 12, Créteil F-94010, France10 INSERM, U421, Créteil F-94010, France11 Assistance Publique-Hôpitaux de Paris, Groupe Hospitalier Cochin Saint Vincent de Paul, Service d'Endocrinologie Pédiatrique, Paris F-75014, France12 Université René Descartes Paris 5, Paris F-75014, France
(Correspondence should be addressed to P Chanson at Service d'Endocrinologie et Maladies de la Reproduction, Hôpital de Bicêtre; Email: philippe.chanson{at}bct.aphp.fr)
Context: A discrepancy between serum GH and IGF1 concentrations is frequent in patients with acromegaly. Here, we examined whether the exon 3-deleted (d3) GH receptor (GHR) variant, which has been linked to increased responsiveness to GH treatment in short children, influences the GH/IGF1 relationship in patients with acromegaly.
Objective: To study the possible influence of the GHR genotype on the GH/IGF1 relationship in untreated acromegalic patients.
Design: GHR genotype analysis with retrospective clinical and biochemical data collection performed in a single third-reference medical center.
Patients and methods: Clinical data were obtained from the medical records of 105 acromegalic patients who had GH and IGF1 assays in the same laboratory and who were genotyped for the full-length (fl) or d3-GHR alleles.
Results: The distribution of GHR genotypes was 51% fl/fl, 30% fl/d3, and 19% d3/d3. Patients with d3/d3 genotype were younger than the patients in the other two groups (P<0.05). Baseline GH and IGF1 concentrations did not differ among the three groups. The linear correlation between GH and IGF1 concentrations was similar in the three genotypic groups.
Conclusions: The exon 3 GHR genotype does not affect the GH/IGF1 relationship in untreated acromegalic patients with high circulating GH and IGF1 levels.
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M. J. E. Wassenaar, N. R. Biermasz, A. M. Pereira, A. A. van der Klaauw, J. W. A. Smit, F. Roelfsema, T. van der Straaten, M. Cazemier, D. W. Hommes, H. M. Kroon, et al. The Exon-3 Deleted Growth Hormone Receptor Polymorphism Predisposes to Long-Term Complications of Acromegaly J. Clin. Endocrinol. Metab., December 1, 2009; 94(12): 4671 - 4678. [Abstract] [Full Text] [PDF]
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