Growth hormone (GH) receptor isoform in acromegaly: Lower concentrations of GH but not insulin-like growth factor-I in patients with a genomic deletion of exon 3 in the GH receptor gene

Clinical Chemistry

Volumn 53, Issue 8, 2007, Pages 1484-1488

  Schmid, Christoph ^a,c   Krayenbuehl, Pierre Alexandre ^a   Bernays, René Ludwig ^a   Zwimpfer, Cornelia ^a   Maly, Friedrich E ^b   Wiesli, Peter ^a  

^a UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^b INSTAND   (Germany)

^c Kantonsspital Frauenfeld   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE; GROWTH HORMONE RECEPTOR; ISOPROTEIN; SOMATOMEDIN C;

ACROMEGALY; ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; DEMOGRAPHY; DNA DETERMINATION; EXON; FEMALE; GENE DELETION; GENOTYPE; GROWTH HORMONE DEFICIENCY; GROWTH RATE; HOMOZYGOSITY; HUMAN; LEUKOCYTE; MALE; ORAL GLUCOSE TOLERANCE TEST; RECEPTOR GENE;

ACROMEGALY; ADULT; CARRIER PROTEINS; EXONS; FEMALE; GENE DELETION; GENOTYPE; HUMAN GROWTH HORMONE; HUMANS; INSULIN-LIKE GROWTH FACTOR I; MALE; PROTEIN ISOFORMS;

EID: 34547625580     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2007.085712     Document Type: Article

References (19)

1. Melmed S. Medical progress: acromegaly. N Engl J Med 2006; 355:2558-73.
2. Giustina A, Barkan A, Casanueva FF, Cavagnini F, Frohman L, Ho K, et al. Criteria for cure of acromegaly: a consensus statement. J Clin Endocrinol Metab 2000;85:526-9.
3. Holly JM, Cotterill AM, Jemmott RC, Shears D, al-Othman S, Chard T, et al. Inter-relations between growth hormone, insulin, insulin-like growth factor-I (IGF-I), IGF-binding protein-1 (IGFBP-1) and sex hormone-binding globulin in acromegaly. Clin Endocrinol 1991;34:275-80.
4. Dobrashian RD, O'Halloran DJ, Hunt A, Beardwell CG, Shalet SM. Relationships between insulin-like growth factor-1 levels and growth hormone concentrations during diurnal profiles and following oral glucose in acromegaly. Clin Endocrinol 1993;38:589-93.
5. Janssen YJ, Frolich M, Roelfsema, F. A low starting dose of genotropin in growth hormone-deficient adults. J Clin Endocrinol Metab 1997;82:129-35.
6. Burman P, Johansson AG, Siegbahn A, Vessby B, Karlsson FA. Growth hormone (GH)-deficient men are more responsive to GH replacement therapy than women. J Clin Endocrinol Metab 1997;82:550-5.
7. Parkinson C, Ryder WD, Trainer PJ; Sensus Acromegaly Study Group. The relationship between serum GH and serum IGF-I in acromegaly is gender-specific. J Clin Endocrinol Metab 2001;86:5240-4.
8. Pantel J, Machinis K, Sobrier ML, Duquesnoy P, Goossens M, Amselem S. Species-specific alternative splice mimicry at the growth hormone receptor locus revealed by the lineage of retroelements during primate evolution. J Biol Chem 2000;275:18664-9.
9. Dos Santos C, Essioux L, Teinturier C, Tauber M, Goffin V, Bougneres P. A common polymorphism of the growth hormone receptor is associated with increased responsiveness to growth hormone. Nat Genet 2004;36:720-4.
10. Binder G, Baur F, Schweizer R, Ranke MB. The d3-growth hormone (GH) receptor polymorphism is associated with increased responsiveness to GH in Turner syndrome and short small-for-gestational-age children. J Clin Endocrinol Metab 2006;91:659-64.
11. Jorge AA, Marchisotti FG, Montenegro LR, Carvalho LR, Menonca BB, Amhold IJ. Growth hormone (GH) pharmacogenetics: influence of GH receptor exon 3 retention or deletion on first-year growth response and final height in patients with severe GH deficiency. J Clin Endocrinol Metab 2006;91:1076-80.
12. Carrascosa A, Esteban C, Espadero R, Fernandez-Cancio M, Andaluz P, Clemente M, et al.; Spanish SGA Study Group. The d3/fl-growth hormone (GH) receptor polymorphism does not influence the effect of GH treatment (66 microg/kg per day) or the spontaneous growth in short non-GH-deficient small-for-gestational-age children: results from a two-year controlled prospective study in 170 Spanish patients. J Clin Endocrinol Metab 2006;91:3281-6.
13. Blum WF, Machinis K, Shavrikova EP, Keller A, Stobbe H, Pfaeffle RW, et al. The growth response to growth hormone (GH) treatment in children with isolated GH deficiency is independent of the presence of the exon 3-minus isoform of the GH receptor. J Clin Endocrinol Metab 2006;91:4171-4.
14. Jaffe CA, Pan W, Brown MB, DeMott-Friberg R, Barkan AL. Regulation of GH secretion in acromegaly: reproducibility of daily GH profiles and attenuated negative feedback by IGF-I. J Clin Endocrinol Metab 2001;86:4364-70.
15. Schmid C, Wiesli P, Bernays R, Bloch K, Zapf J, Zwimpfer C, et al. Decrease in sE-selectin after pituitary surgery in patients with acromegaly. Clin Chem 2004;50:650-2.
16. Wiesli P, Zwimpfer C, Zapf J, Schmid C. Pregnancy-induced changes in insulin-like growth factor I (IGF-I), insulin-like growth factor binding protein 3 (IGFBP-3), and acid-labile subunit (ALS) in patients with growth hormone (GH) deficiency and excess. Acta Obstet Gynecol Scand 2006;85:900-5.
17. Puder JJ, Nilavar S, Post KD, Freda PU. Relationship between disease-related morbidity and biochemical markers of activity in patients with acromegaly. J Clin Endocrinol Metab 2005;90:1972-8.
18. Sheppard MC. Growth hormone assay standardization: an important clinical advance. Clin Endocrinol 2007;66:157-61.
19. Markkanen H, Pekkarinen T, Valimaki MJ, Alfthan H, Kauppinen-Makelin R, Sane T, et al. Effect of sex and assay method on serum concentrations of growth hormone in patients with acromegaly and in healthy controls. Clin Chem 2006;52:468-73.