Article
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.
Clinical chemistry - 1 Aug 2007
Schmid Christoph, Krayenbuehl Pierre-Alexandre, Bernays René-Ludwig, Zwimpfer Cornelia, Maly Friedrich E, Wiesli Peter
Abstract excerpt
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)...
Topics
- Acromegaly
- Adult
- Carrier Proteins
- Exons
- Female
- Gene Deletion
- Genotype
- Human Growth Hormone
- Humans
- Insulin-Like Growth Factor I
- Male
- Protein Isoforms