The exon 3-deleted growth hormone receptor is associated with better response to pegvisomant therapy in acromegaly

Journal of Clinical Endocrinology and Metabolism

Volumn 95, Issue 1, 2010, Pages 222-229

  Bernabeu, Ignacio ^a   Alvarez Escolá, Cristina ^b   Quinteiro, Celsa ^a   Lucas, Tomás ^c   Puig Domingo, Manel ^d   Luque Ramírez, Manuel ^e   De Miguel Novoa, Paz ^f   Fernandez Rodriguez, Eva ^a   Halperin, Irene ^d   Loidi, Lourdes ^a   Casanueva, Felipe F ^a,g   Marazuela, Mónica ^e  

^a HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

^b HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^c UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^d UNIVERSITY OF BARCELONA   (Spain)

^e HOSPITAL UNIVERSITARIO DE LA PRINCESA   (Spain)

^f UNIVERSIDAD COMPLUTENSE DE MADRID   (Spain)

^g INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE; GROWTH HORMONE RECEPTOR; PEGVISOMANT; SOMATOMEDIN C; SOMATOSTATIN DERIVATIVE;

ACROMEGALY; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DOSE RESPONSE; DRUG DOSE INCREASE; DRUG DOSE REDUCTION; DRUG DOSE TITRATION; DRUG EFFICACY; EXON; FEMALE; GENE DELETION; GENOTYPE; HUMAN; LIPOHYPERTROPHY; LIVER FUNCTION TEST; MALE; NUCLEOTIDE SEQUENCE; PREVALENCE; PRIORITY JOURNAL; SIDE EFFECT; TREATMENT RESPONSE; TUMOR VOLUME; UNIVERSITY HOSPITAL;

EID: 75149198572     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-1630     Document Type: Article

References (35)

1. Godowski PJ, Leung DW, Meacham LR, Galgani JP, Hellmiss R, Keret R, Rotwein PS, Parks JS, Laron Z, Wood WI 1989 Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism. Proc Natl Acad Sci USA 86:8083-8087
2. Pantel J, Machinis K, Sobrier ML, Duquesnoy P, Goossens M, Amselem S 2000 Species-specific alternative splice mimicry at the growth hormone receptor locus revealed by the lineage of retroelements during primate evolution. J Biol Chem 275:18664-18669
3. Dos Santos C, Essioux L, Teinturier C, Tauber M, Goffin V, Bougnères P 2004 A commonpolymorphism of the growth hormone receptor is associated with increased responsiveness to growth hormone. Nat Genet 36:720-724
4. Sobrier ML, Duquesnoy P, Duriez B, Amselem S, Goossens M 1993 Expression and binding properties of two isoforms of the human growth hormone receptor. FEBS Lett 319:16-20
5. Urbanek M, Russell JE, Cooke NE, Liebhaber SA 1993 Functional characterization of the alternatively spliced, placental human growth hormone receptor. J Biol Chem 268:19025-19032
6. Bass SH, Mulkerrin MG, Wells JA 1991 A systematic mutational analysis of hormone-binding determinants in the human growth hormone receptor. Proc Natl Acad Sci USA 88:4498-4502
7. Wassenaar MJ, Dekkers OM, Pereira AM, Wit JM, Smit JW, Biermasz NR, Romijn JA 2009 Impact of the exon 3-deleted growth hormone (GH) receptor polymorphism on baseline height and the growth response to recombinant human GH therapy in GH-deficient (GHD) and non-GHD children with short stature: a systematic review and meta-analysis. J Clin Endocrinol Metab 94:3721-3730
8. Mercado M, González B, Sandoval C, Esquenazi Y, Mier F, Vargas G, de los Monteros AL, Sosa E 2008 Clinical and biochemical impact of the d3 growth hormone receptor genotype in acromegaly. J Clin Endocrinol Metab 93:3411-3415
9. Kopchick JJ, Parkinson C, Stevens EC, Trainer PJ 2002 Growth hormone receptor antagonists: discovery, development, and use in patients with acromegaly. Endocr Rev 23:623-646
10. Maamra M, Kopchick JJ, Strasburger CJ, Ross RJ 2004 Pegvisomant, a growth hormone-specific antagonist, undergoes cellular internalization. J Clin Endocrinol Metab 89:4532-4537
11. Ross RJ, Leung KC, Maamra M, Bennett W, Doyle N, Waters MJ, Ho KK 2001 Binding and functional studies with the growth hormone receptor antagonist, B2036-PEG (pegvisomant), reveal effects of pegylation and evidence that it binds to a receptor dimer. J Clin Endocrinol Metab 86:1716-1723
12. Harding PA, Wang X, Okada S, Chen WY, Wan W, Kopchick JJ 1996 Growth hormone (GH) and a GH antagonist promote GH receptor dimerization and internalization. J Biol Chem 271:6708-6712
13. van der Lely AJ, Hutson RK, Trainer PJ, Besser GM, Barkan AL, Katznelson L, Klibanski A, Herman-Bonert V, Melmed S, Vance ML, Freda PU, Stewart PM, Friend KE, Clemmons DR, Johannsson G, Stavrou S, Cook DM, Phillips LS, Strasburger CJ, Hackett S, Zib KA, Davis RJ, Scarlett JA, Thorner MO 2001 Long-term treatment of acromegaly with pegvisomant, a growth hormone receptor antagonist. Lancet 358:1754-1759
14. Marazuela M, Lucas T, Alvarez-Escolá C, Puig-Domingo M, de la Torre NG, de Miguel-Novoa P, Duran-Hervada A, Manzanares R, Luque-Ramírez M, Halperin I, Casanueva FF, Bernabeu I 2009 Long-term treatment of acromegalic patients resistant to somatostatin analogues with the GH receptor antagonist pegvisomant: its efficacy in relation to gender and previous radiotherapy. Eur J Endocrinol 160:535-542
15. Higham CE, Chung TT, Lawrance J, Drake WM, Trainer PJ 2009 Long term experience of pegvisomant therapy as a treatment for acromegaly. Clin Endocrinol (Oxf) 71:86-91
16. Schreiber I, Buchfelder M, Droste M, Forssmann K, Mann K, Saller B, Strasburger CJ 2007 Treatment of acromegaly with the GH receptor antagonist pegvisomant in clinical practice: safety and efficacy evaluation from the German Pegvisomant Observational Study. Eur J Endocrinol 156:75-82
17. Colao A, Pivonello R, Auriemma RS, De Martino MC, Bidlingmaier M, Briganti F, Tortora F, Burman P, Kourides IA, Strasburger CJ, Lombardi G 2006 Efficacy of 12-month treatment with the GH receptor antagonist pegvisomant in patients with acromegaly resistant to long-term, high-dose somatostatin analog treatment: effect on IGF-I levels, tumor mass, hypertension and glucose tolerance. Eur J Endocrinol 154:467-477
18. Jehle S, Reyes CM, Sundeen RE, Freda PU 2005 Alternate-day administration of pegvisomant maintains normal serum insulin-like growth factor-I levels in patients with acromegaly. J Clin Endocrinol Metab 90:1588-1593
19. Parkinson C, Burman P, Messig M, Trainer PJ 2007 Gender, body weight, disease activity, and previous radiotherapy influence the response to pegvisomant. J Clin Endocrinol Metab 92:190-195
20. Giustina A, Barkan A, Casanueva FF, Cavagnini F, Frohman L, Ho K, Veldhuis J, Wass J, Von Werder K, Melmed S 2000 Criteria for cure of acromegaly: a consensus statement. J Clin Endocrinol Metab 85:526-529
21. Millar DS, Lewis MD, Horan M, Newsway V, Rees DA, Easter TE, Pepe G, Rickards O, Norin M, Scanlon MF, Krawczak M, Cooper DN 2008 Growth hormone (GH1) gene variation and the growth hormone receptor (GHR) exon 3 deletion polymorphism in a West-African population. Mol Cell Endocrinol 296:18-25
22. Marazuela M, Daudén E, Ocón E, Moure D, Nattero L 2007 Pegvisomant-induced lipohypertrophy: report of a case with histopathology. Ann Intern Med 147:741-743
23. Bernabeu I, Cameselle-Teijeiro J, Casanueva FF, Marazuela M 2009 Pegvisomant-induced cholestatic hepatitis with jaundice in a patient with Gilbert's syndrome. Eur J Endocrinol 160:869-872
24. Binder G, Baur F, Schweizer R, Ranke MB 2006 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 91:659-664
25. Kamenicky P, Dos Santos C, Espinosa C, Salenave S, Galland F, Le Bouc Y, Maison P, Bougnères P, Chanson P 2009 D3 growth hormone receptor polymorphism is not associated with IGF-1 levels in untreated acromegaly. Eur J Endocrinol 161:231-235
26. Schmid C, Krayenbuehl PA, Bernays RL, Zwimpfer C, Maly FE, Wiesli P 2007 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. Clin Chem 53:1484-1488
27. Bianchi A, Giustina A, Cimino V, Pola R, Angelini F, Pontecorvi A, De Marinis L 2009 Influence of growth hormone receptor d3 and full-length isoforms on biochemical treatment outcomes in acromegaly. J Clin Endocrinol Metab 94:2015-2022
28. Bianchi A, Mazziotti G, Tilaro L, Cimino V, Veltri F, Gaetani E, Pecorini G, Pontecorvi A, Giustina A, De Marinis L 2009 Growth hormone receptor polymorphism and the effects of pegvisomant in acromegaly. Pituitary 12:196-199
29. Barbosa EJ, Palming J, Glad CA, Filipsson H, Koranyi J, Bengtsson BA, Carlsson LM, Boguszewski CL, Johannsson G 2009 Influence of the exon 3-deleted/full-length growth hormone (GH) receptor polymorphism on the response to GH replacement therapy in adults with severe GH deficiency. J Clin Endocrinol Metab 94:639-644
30. Horan M, Newsway V, Yasmin, Lewis MD, Easter TE, Rees DA, Mahto A, Millar DS, Procter AM, Scanlon MF, Wilkinson IB, Hall IP, Wheatley A, Blakey J, Bath PM, Cockcroft JR, Krawczak M, Cooper DN 2006 Genetic variation at the growth hormone (GH1) and growth hormone receptor (GHR) loci as a risk factor for hypertension and stroke. Hum Genet 119:527-540
31. Audí L, Esteban C, Carrascosa A, Espadero R, Pérez-Arroyo A, Arjona R, Clemente M, Wollmann H, Fryklund L, Parodi LA 2006 Exon 3-deleted/full-length growth hormone receptor polymorphism genotype frequencies in Spanish short small-for-gestational-age (SGA) children and adolescents (n = 247) and in an adult control population (n = 289) show increased fl/fl in short SGA. J Clin Endocrinol Metab 91:5038-5043
32. Meinhardt UJ, Ho KK 2007 Regulation of growth hormone action by gonadal steroids. Endocrinol Metab Clin North Am 36:57-73
33. Mercado M, Espinosa de los Monteros AL, Sosa E, Cheng S, Mendoza V, Hernández I, Sandoval C, Guinto G, Molina M 2004 Clinical-biochemical correlations in acromegaly at diagnosis and the real prevalence of biochemically discordant disease. Horm Res 62: 293-299
34. Strawbridge RJ,Kärvestedt L, Li C, Efendic S, Ostenson CG, Gu HF, Brismar K 2007 GHR exon 3 polymorphism: association with type 2 diabetes mellitus and metabolic disorder. Growth Horm IGF Res 17:392-398
35. Yuen KC, Dunger DB 2007 Therapeutic aspects of growth hormone and insulin-like growth factor-I treatment on visceral fat and insulin sensitivity in adults. Diabetes Obes Metab 9:11-22