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This Article Full Text Full Text (PDF) 085712.Supplemental Data All Versions of this Article: clinchem.2007.085712v1 53/8/1484    most recent Submit an electronic Letter to the Editor about this paper Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Schmid, C. Articles by Wiesli, P. Search for Related Content PubMed PubMed Citation Articles by Schmid, C. Articles by Wiesli, P. Related Collections Endocrinology and Metabolism

Growth Hormone (GH) Receptor Isoform in Acromegaly: Lower Concentrations of GH but Not Insulin-Like Growth Factor-1 in Patients with a Genomic Deletion of Exon 3 in the GH Receptor Gene

¹ University Hospital of Zurich, Department of Internal Medicine, Division of Endocrinology and Diabetes, Zurich, Switzerland.
² University Hospital of Zurich, Department of Internal Medicine, Medical Policlinic, Zurich, Switzerland.
³ University Hospital of Zurich, Department of Neurosurgery, Zurich, Switzerland.
⁴ INSTAND, WHO Collaborating Centre for Quality Assurance and Standardization in Laboratory Medicine, Düsseldorf, Germany.

^aAddress correspondence to this author at: Medizinische Klinik, Endokrinologie and Diabetes, Kantonsspital Frauenfeld, CH-8500 Frauenfeld, Switzerland. Fax 0041-52-723-73-68; e-mail peter.wiesli{at}stgag.ch.

Background: A genomic deletion of exon 3 (d3-GHR) of the growth hormone (GH) receptor (GHR) has been linked to the effectiveness of GH therapy in children with GH deficiency. Carriers of the d3-GHR genotype had higher GH-induced growth rates than children homozygous for the full-length (fl)-GHR. The aim of this study was to test whether the relationship between GH and insulin-like growth factor-1 (IGF-1) concentrations is influenced by the GHR genotype in patients with acromegaly.

Methods: Study participants were 44 adult patients with established diagnosis of acromegaly. The genotype of the GHR was determined in leukocyte DNA from peripheral blood. Clinical and biochemical findings at the time of diagnosis of acromegaly were obtained from the medical records of the patients.

Results: fl-GHR homozygosity was found in 22 (50%) of patients, and 22 (50%) of patients had at least 1 d3 allele (d3-GHR). Demographic and clinical characteristics (age, height, weight, estimated duration of disease, and mean tumor size) of the 2 groups were comparable. Median (range) serum IGF-1 concentrations at the time of diagnosis were 670 (447–1443) µg/L in the fl-GHR group and 840 (342–1494) µg/L in the d3-GHR group (P = not significant). Basal GH concentrations were higher in the fl-GHR group [29.7 (3.8–159) µg/L] than in the d3-GHR group [8.4 (2.6–74 µg/L), P = 0.002], and so were mean (30.4 vs 6.1 µg/L, P = 0.005) and nadir (20.5 vs 5.1 µg/L, P = 0.003) GH concentrations during an oral glucose tolerance test.

Conclusions: The GHR fl/d3 genotype modulates the relationship between GH and IGF-1 concentrations in patients presenting with acromegaly.

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