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This Article Full Text Full Text (PDF) All Versions of this Article: EJE-09-0405v1 161/4/541    most recent Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Google Scholar Articles by Adetunji, O R Articles by Blair, J C PubMed PubMed Citation Articles by Adetunji, O R Articles by Blair, J C

The d3/fl-GH receptor gene polymorphism does not influence quality of life and body composition in GH-deficient adults receiving GH replacement therapy

The University Department of Diabetes and Endocrinology, University Hospital Aintree, Liverpool, L9 7AL, UK¹ Walton Centre for Neurology and Neurosurgery, Liverpool, L9 7LJ, UK² Department of Pharmacology and Therapeutics, University of Liverpool, Ashton Street, Liverpool, L69 3BX, UK³ Royal Liverpool Children's NHS Trust, Alder Hey, Liverpool, L12 2AP, UK

(Correspondence should be addressed to O R Adetunji; Email: o.r.adetunji{at}liverpool.ac.uk)

Context: The growth response to recombinant human growth hormone (rhGH) in GH deficient (GHD) patients may be influenced by polymorphisms in the growth hormone receptor (GHR) gene.

Objectives: To investigate adults with GHD who have been treated with rhGH for more than 1 year to determine the relationship between genomic deletion of exon 3 in the GHR gene and quality of life (QoL), body composition (BC) and serum IGF1 levels, and to compare these variables to a healthy adult control population.

Design: Cross-sectional study.

Methods: A total of 100 healthy adult controls and 131 patients were studied. Deletion of exon 3 in the GHR gene was determined in DNA that was isolated from peripheral blood. QoL was determined using the adult GHD assessment scale and three other validated QoL instruments.

Results: In the control population, the frequency of the genotypes was 53% fl/fl, 40% d3/fl and 7% d3/d3, and in the patient population, 55, 39 and 6% respectively. There was no significant difference in QoL scores and BC in control subjects with the fl/fl genotype compared with those with the d3/d3 or fl/d3 genotype. There was no difference in the rhGH dose required to optimize serum IGF1, QoL or BC in patients with the fl/fl genotype compared with those with the d3/d3 or d3/fl genotype.

Conclusion: Deletion of exon 3 in the GHR gene does not influence adult height, QoL or BC of the normal adult population nor does it influence rhGH dose, QoL and BC in GHD adults treated with rhGH for more than 1 year.