Literature DB >> 19089622

Growth hormone receptor polymorphism and the effects of pegvisomant in acromegaly.

Antonio Bianchi1, Gherardo Mazziotti, Laura Tilaro, Vincenzo Cimino, Flora Veltri, Eleonora Gaetani, Giovanni Pecorini, Alfredo Pontecorvi, Andrea Giustina, Laura De Marinis.   

Abstract

BACKGROUND: Sensitivity to pegvisomant therapy is highly variable in patients with acromegaly but determinants of this variability are still unknown. Lack of exon 3 (d3-) of the growth hormone (GH) receptor (GHR) has been associated with increased biological activity of GH.
OBJECTIVE: To assess whether the presence of d3-GHR haplotype may have a role in predicting dose regimen and response to pegvisomant in acromegaly.
DESIGN: Case series. Setting Institutional referral center at a tertiary care hospital. Patients Nineteen acromegalic patients with active disease after unsuccessful neurosurgery and somatostatin analog therapy. MEASUREMENTS: Before and 1, 3, 6 and 12 months after treatment with pegvisomant, IGF-I; GH receptor genotype, determined from peripheral blood by polymerase chain reaction. All patients started treatment with pegvisomant at 10 mg/daily and then increased the dose, according to a fixed schedule, during a 12-month follow-up until normalization of IGF-I levels.
RESULTS: d3-GHR patients required a significant lower dose of pegvisomant and shorter treatment time to normalize IGF-I.
CONCLUSION: The GHR genotype could be useful in predicting dose and individual response to pegvisomant in acromegaly.

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Year:  2009        PMID: 19089622     DOI: 10.1007/s11102-008-0157-8

Source DB:  PubMed          Journal:  Pituitary        ISSN: 1386-341X            Impact factor:   4.107


  20 in total

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Authors:  P J Godowski; D W Leung; L R Meacham; J P Galgani; R Hellmiss; R Keret; P S Rotwein; J S Parks; Z Laron; W I Wood
Journal:  Proc Natl Acad Sci U S A       Date:  1989-10       Impact factor: 11.205

2.  Lipohypertrophy in acromegaly induced by the new growth hormone receptor antagonist pegvisomant.

Authors:  Pietro Maffei; Chiara Martini; Claudio Pagano; Nicola Sicolo; Francesco Corbetti
Journal:  Ann Intern Med       Date:  2006-08-15       Impact factor: 25.391

3.  Consensus statement: medical management of acromegaly.

Authors:  S Melmed; F Casanueva; F Cavagnini; P Chanson; L A Frohman; R Gaillard; E Ghigo; K Ho; P Jaquet; D Kleinberg; S Lamberts; E Laws; G Lombardi; M C Sheppard; M Thorner; M L Vance; J A H Wass; A Giustina
Journal:  Eur J Endocrinol       Date:  2005-12       Impact factor: 6.664

4.  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.

Authors:  Alexander A L Jorge; Frederico G Marchisotti; Luciana R Montenegro; Luciani R Carvalho; Berenice B Mendonca; Ivo J P Arnhold
Journal:  J Clin Endocrinol Metab       Date:  2005-11-15       Impact factor: 5.958

5.  The d3-growth hormone (GH) receptor polymorphism is associated with increased responsiveness to GH in Turner syndrome and short small-for-gestational-age children.

Authors:  G Binder; F Baur; R Schweizer; M B Ranke
Journal:  J Clin Endocrinol Metab       Date:  2005-11-15       Impact factor: 5.958

6.  Long-term treatment of acromegaly with pegvisomant, a growth hormone receptor antagonist.

Authors:  A J van der Lely; R K Hutson; P J Trainer; G M Besser; A L Barkan; L Katznelson; A Klibanski; V Herman-Bonert; S Melmed; M L Vance; P U Freda; P M Stewart; K E Friend; D R Clemmons; G Johannsson; S Stavrou; D M Cook; L S Phillips; C J Strasburger; S Hackett; K A Zib; R J Davis; J A Scarlett; M O Thorner
Journal:  Lancet       Date:  2001-11-24       Impact factor: 79.321

Review 7.  Growth hormone receptor antagonists: discovery, development, and use in patients with acromegaly.

Authors:  J J Kopchick; C Parkinson; E C Stevens; P J Trainer
Journal:  Endocr Rev       Date:  2002-10       Impact factor: 19.871

8.  Gender, body weight, disease activity, and previous radiotherapy influence the response to pegvisomant.

Authors:  Craig Parkinson; Pia Burman; Michael Messig; Peter J Trainer
Journal:  J Clin Endocrinol Metab       Date:  2006-10-31       Impact factor: 5.958

9.  Clinical and biochemical impact of the d3 growth hormone receptor genotype in acromegaly.

Authors:  Moisés Mercado; Baldomero González; Carolina Sandoval; Yoshua Esquenazi; Fernando Mier; Guadalupe Vargas; Ana Laura Espinosa de los Monteros; Ernesto Sosa
Journal:  J Clin Endocrinol Metab       Date:  2008-07-08       Impact factor: 5.958

10.  Variants of the 5'-untranslated sequence of human growth hormone receptor mRNA.

Authors:  R I Pekhletsky; B K Chernov; P M Rubtsov
Journal:  Mol Cell Endocrinol       Date:  1992-12       Impact factor: 4.102

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  12 in total

Review 1.  Update on prognostic factors in acromegaly: Is a risk score possible?

Authors:  E Fernandez-Rodriguez; F F Casanueva; I Bernabeu
Journal:  Pituitary       Date:  2015-06       Impact factor: 4.107

2.  Optimal use of pegvisomant in acromegaly: are we getting there?

Authors:  Andrea Giustina
Journal:  Endocrine       Date:  2014-10-28       Impact factor: 3.633

3.  Rapid method for growth hormone receptor exon 3 delete (GHRd3) SNP genotyping from archival human placental samples.

Authors:  Rebecca A Pelekanos; Varda S Sardesai; Marloes Dekker Nitert; Leonie K Callaway; Nicholas M Fisk; Penny L Jeffery
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4.  Prevalence of morphometric vertebral fractures in "difficult" patients with acromegaly with different biochemical outcomes after multimodal treatment.

Authors:  S Chiloiro; M Mormando; A Bianchi; A Giampietro; D Milardi; C Bima; G Grande; A M Formenti; G Mazziotti; A Pontecorvi; A Giustina; L De Marinis
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5.  Influence of growth hormone receptor (GHR) exon 3 and -202A/C IGFBP-3 genetic polymorphisms on clinical and biochemical features and therapeutic outcome of patients with acromegaly.

Authors:  Raquel S Jallad; Ericka B Trarbach; Felipe H Duarte; Alexander A L Jorge; Marcello D Bronstein
Journal:  Pituitary       Date:  2015-10       Impact factor: 4.107

Review 6.  The exon 3-deleted growth hormone receptor: molecular and functional characterization and impact on GH/IGF-I axis in physiological and pathological conditions.

Authors:  M Filopanti; C Giavoli; S Grottoli; A Bianchi; L De Marinis; E Ghigo; A Spada
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7.  Does pegvisomant treatment expertise improve control of resistant acromegaly? The Italian ACROSTUDY experience.

Authors:  S Cannavo; F Bogazzi; A Colao; L De Marinis; P Maffei; R Gomez; E Graziano; M Monterubbianesi; S Grottoli
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8.  Growth hormone receptor exon 3 isoforms may have no importance in the clinical setting of multiethnic Brazilian acromegaly patients.

Authors:  Evelyn de Oliveira Machado; Carlos Henrique Azeredo Lima; Liana Lumi Ogino; Leandro Kasuki; Mônica R Gadelha
Journal:  Pituitary       Date:  2016-08       Impact factor: 4.107

Review 9.  The Effect of the Exon-3-Deleted Growth Hormone Receptor on Pegvisomant-Treated Acromegaly: A Systematic Review and Meta-Analysis.

Authors:  Sanne E Franck; Linda Broer; Aart Jan van der Lely; Peter Kamenicky; Ignacio Bernabéu; Elena Malchiodi; Patric J D Delhanty; Fernando Rivadeneira; Sebastian J C M M Neggers
Journal:  Neuroendocrinology       Date:  2016-08-12       Impact factor: 4.914

10.  Long-term treatment of somatostatin analog-refractory growth hormone-secreting pituitary tumors with pegvisomant alone or combined with long-acting somatostatin analogs: a retrospective analysis of clinical practice and outcomes.

Authors:  Antonio Bianchi; Ferdinando Valentini; Raffaella Iuorio; Maurizio Poggi; Roberto Baldelli; Marina Passeri; Antonella Giampietro; Linda Tartaglione; Sabrina Chiloiro; Marialuisa Appetecchia; Patrizia Gargiulo; Andrea Fabbri; Vincenzo Toscano; Alfredo Pontecorvi; Laura De Marinis
Journal:  J Exp Clin Cancer Res       Date:  2013-06-21
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