Influence of growth hormone receptor d3 and full-length isoforms on biochemical treatment outcomes in acromegaly

Journal of Clinical Endocrinology and Metabolism

Volumn 94, Issue 6, 2009, Pages 2015-2022

  Bianchi, Antonio ^a   Giustina, Andrea ^b   Cimino, Vincenzo ^a   Pola, Roberto ^a   Angelini, Flavia ^a   Pontecorvi, Alfredo ^a   De Marinis, Laura ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b UNIVERSITY OF BRESCIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

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

ACROMEGALY; ADULT; AGE DISTRIBUTION; AGED; ARTICLE; BLOOD; DISEASE DURATION; EXON; FEMALE; FOLLOW UP; GENETIC POLYMORPHISM; GENOTYPE; GROWTH HORMONE BLOOD LEVEL; HUMAN; MAJOR CLINICAL STUDY; MALE; NEUROSURGERY; PREDICTION; PREVALENCE; PRIORITY JOURNAL; PROSPECTIVE STUDY; RETROSPECTIVE STUDY; SEX DIFFERENCE; TREATMENT OUTCOME;

EID: 66749136426     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2008-1337     Document Type: Article

References (51)

1. Leung DW, Spencer SA, Cachianes G, Hammonds RG, Collins C, Henzel WJ, Barnard R, Waters MJ, Wood WI 1987 Growth hormone receptor and serum binding protein: purification, cloning and expression. Nature 330:537-543 (Pubitemid 17164350)
2. Giustina A, Mazziotti G, Canalis E 2008 Growth hormone, insulin-like growth factors, and the skeleton. Endocr Rev 29:535-559
3. Kelly PA, Djiane J, Postel-Vinay MC, Edery M 1991 The prolactin/growth hormone receptor family. Endocr Rev 12:235-251
4. 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 (Pubitemid 19265324)
5. Pekhletsky RI, Chernov BK, Rubtsov PM 1992 Variants of the 5′-untranslated sequence of human growth hormone receptor mRNA. Mol Cell Endocrinol 90:103-109
6. Urbanek M, MacLeod JN, Cooke NE, Liebhaber SA 1992 Expression of a human growth hormone (hGH) receptor isoform is predicted by tissue-specific alternative splicing of exon 3 of the hGH receptor gene transcript. Mol Endocrinol 6:279-287
7. Wickelgren RB, Landin KL, Ohlsson C, Carlsson LM 1995 Expression of exon 3-retaining and exon 3-excluding isoforms of the human growth hormone-receptor is regulated in an interindividual, rather than a tissue-specific, manner. J Clin Endocrinol Metab 80:2154-2157
8. Dos Santos C, Essioux L, Teinturier C, Tauber M, Goffin V, Bougnères P 2004 A common polymorphism of the growth hormone receptor is associated with increased responsiveness to growth hormone. Nat Genet 36:720-724 (Pubitemid 38886633)
9. 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 (Pubitemid 43236940)
10. Jorge AA, Marchisotti FG, Montenegro LR, Carvalho LR, Mendonca BB, Arnhold IJ 2006 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 91:1076-1080 (Pubitemid 43357783)
11. Carrascosa A, Esteban C, Espadero R, Fernández-Cancio M, Andaluz P, Clemente M, Audí L, Wollmann H, Fryklund L, Parodi L 2006 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 91:3281-3286 (Pubitemid 44402092)
12. Carrascosa A, Audí L, Fernández-Cancio M, Esteban C, Andaluz P, VilaróE, Clemente M, Yeste D, Albisu MA, GussinyéM2008 The exon 3-deleted/full-length growth hormone receptor polymorphism did not influence growth response to growth hormone therapy over two years in prepubertal short children born at term with adequate weight and length for gestational age. J Clin Endocrinol Metab 93:764-770
13. Blum WF, Machinis K, Shavrikova EP, Keller A, Stobbe H, Pfaeffle RW, Amselem S 2006 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 91:4171-4174 (Pubitemid 44536901)
14. 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 (Pubitemid 47206345)
15. 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 haplotype in acromegaly. J Clin Endocrinol Metab 93:3411-3415
16. Melmed S 2006 Medical progress: acromegaly.NEngl J Med 355:2558-2573
17. Kauppinen-Mäkelin R, Sane T, Reunanen A, Välimäki MJ, Niskanen L, Markkanen H, Löyttyniemi E, Ebeling T, Jaatinen P, Laine H, Nuutila P, Salmela P, Salmi J, Stenman UH, Viikari J, Voutilainen E 2005 A nationwide survey of mortality in acromegaly. J Clin Endocrinol Metab 90:4081-4086 (Pubitemid 41058176)
18. Holdaway IM, Rajasoorya RC, Gamble GD 2004 Factors influencing mortality in acromegaly. J Clin Endocrinol Metab 89:667-674 (Pubitemid 38269875)
19. Cazabat L, Souberbielle JC, Chanson P 2008 Dynamic tests for the diagnosis and assessment of treatment efficacy in acromegaly. Pituitary 11:129-139
20. Giustina A, Bresciani E, Bussi AR, Bollati A, Bonfanti C, Bugari G, Chiesa L, Giustina G 1995 Characterization of the paradoxical growth hormone inhibitory effect of galanin in acromegaly. J Clin Endocrinol Metab 80:1333-1340
21. 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 (Pubitemid 32273628)
22. 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 (Pubitemid 40069628)
23. Alexopoulou O, Bex M, Abs R, T'sjoen G, Velkeniers B, Maiter D 2008 Divergence between growth hormone and insulin-like growth factor-I concentrations in the follow-up of acromegaly. J Clin Endocrinol Metab 93:1324-1330
24. Machado EO, Taboada GF, Neto LV, van Haute FR, Corrêa LL, Balarini GA, Shrank Y, Goulart M, Gadelha MR 2008 Prevalence of discordant GH and IGF-I levels in acromegalics at diagnosis, after surgical treatment and during treatment with octreotide LAR. Growth Horm IGF Res 18:389-393
25. Ho PJ, Jaffe CA, Friberg RD, Chandler WF, Barkan AL 1994 Persistence of rapid growth hormone (GH) pulsatility after successful removal of GH-producing pituitary tumors. J Clin Endocrinol Metab 78:1403-1410 (Pubitemid 24181012)
26. Bates AS, Evans AJ, Jones P, Clayton RN 1995 Assessment of GH status in acromegaly using serum growth hormone, serum insulin-like growth factor-1 and urinary growth hormone excretion, Clin Endocrinol (Oxf) 42:417-423
27. Parfitt VJ, Flanagan D, Wood P, Leatherdale BA 1998 Outpatient assessment of residual growth hormone secretion in treated acromegaly with overnight urinary growth hormone excretion, random serum growth hormone and insulin like growth factor-1. Clin Endocrinol (Oxf) 49:647-652 (Pubitemid 28529764)
28. Sheaves R 1993 Interpretation of IGF-1 levels in the assessment of acromegaly. Current Medical Literature: Growth Hormone and Growth Factors 8:59-61
29. Kaltsas GA, Isidori AM, Florakis D, Trainer PJ, Camacho-Hubner C, Afshar F, Sabin I, Jenkins JP, Chew SL, Monson JP, Besser GM, Grossman AB 2001 Predictors of the outcome of surgical treatment in acromegaly and the value of the mean growth hormone day curve in assessing postoperative disease activity. J Clin Endocrinol Metab 86:1645-1652 (Pubitemid 32374917)
30. Boquete HR, Sobrado PG, Fideleff HL, Sequera AM, Giaccio AV, Suárez MG, Ruibal GF, Miras M 2003 Evaluation of diagnostic accuracy of insulin-like growth factor (IGF)-I and IGF-binding protein-3 in growth hormone-deficient children and adults using ROC plot analysis. J Clin Endocrinol Metab 88:4702-4708 (Pubitemid 37357515)
31. 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
32. Giustina A, Veldhuis JD 1998 Pathophysiology of the neuroregulation of growth hormone secretion in experimental animals and the human. Endocr Rev 19:717-797 (Pubitemid 128506521)
33. De Marinis L, Mancini A, Zuppi P, Anile C, Maira G 1990 Paradoxical growth hormone response to thyrotropin-releasing hormone in acromegaly. Clinical correlations and prognostic value. Acta Endocrinol (Copenh) 122:443-449
34. Giustina A, Bodini C, Doga M, Schettino M, Pizzocolo G, Giustina G 1992 Galanin decreases circulating growth hormone levels in acromegaly. J Clin Endocrinol Metab 74:1296-1300
35. Clemmons DR, Underwood LE 1991 Nutritional regulation of IGF-I and IGF binding proteins. Annu Rev Nutr 11:393-412 (Pubitemid 21903836)
36. Thissen JP, Ketelslegers JM, Underwood LE 1994 Nutritional regulation of the insulin-like growth factors. Endocr Rev 15:80-101 (Pubitemid 24058597)
37. Jones JI, Clemmons DR 1995 Insulin-like growth factors and their binding proteins: biological actions. Endocr Rev 16:3-34
38. Oppizzi G, Petroncini MM, Dallabonzana D, Cozzi R, Verde G, Chiodini PG, Liuzzi A 1986 Relationship between somatomedin-C and growth hormone levels in acromegaly: basal and dynamic evaluation. J Clin Endocrinol Metab 63:1348-1353 (Pubitemid 17206428)
39. Lamberts SW, Uitterlinden P, Schuijff PC, Klijn JG 1988 Therapy of acromegaly with sandostatin: the predictive value of an acute test, the value of serum somatomedin-C measurements in dose adjustment and the definition of a biochemical cure. Clin Endocrinol (Oxf) 29:411-420 (Pubitemid 18239387)
40. Hartman ML, Veldhuis JD, Vance ML, Faria AC, Furlanetto RW, Thorner MO 1990 Somatotropin pulse frequency and basal concentrations are increased in acromegaly and are reduced by successful therapy. J Clin Endocrinol Metab 70:1375-1384 (Pubitemid 20159075)
41. Ho KY, Weissberger AJ 1994 Characterization of 24-hour growth hormone secretion in acromegaly: implications for diagnosis and therapy. Clin Endocrinol (Oxf) 41:75-83 (Pubitemid 24232531)
42. van der Lely AJ, de Herder WW, Janssen JA, Lamberts SW 1997 Acromegaly: the significance of serum total and free IGF-I and IGF-binding protein-3 in diagnosis. J Endocrinol 155(Suppl 1):S9 -S13; discussion, S15-S16 (Pubitemid 27452043)
43. Barkan AL, Beitins IZ, Kelch RP 1988 Plasma insulin-like growth factor-I/somatomedin-C in acromegaly: correlation with the degree of growth hormone hypersecretion. J Clin Endocrinol Metab 67:69-73 (Pubitemid 18177118)
44. Holly JM, Cotterill AM, Jemmott RC, Shears D, al-Othman S, Chard T, Wass JA 1991 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 (Oxf) 34:275-280
45. Rieu M, Girard F, Bricaire H, Binoux M 1982 The importance of insulin-like growth factor (somatomedin) measurements in the diagnosis and surveillance of acromegaly. J Clin Endocrinol Metab 55:147-153 (Pubitemid 13250339)
46. Barreca A, Ciccarelli E, Minuto F, Bruzzi P, Giordano G, Camanni F 1989 Insulin-like growth factor I and daily growth hormone profile in the assessment of active acromegaly. Acta Endocrinol (Copenh) 120:629-635 (Pubitemid 19123896)
47. Melmed S, Casanueva FF, Cavagnini F, Chanson P, Frohman L, Grossman A,Ho K, Kleinberg D, Lamberts S, Laws E, Lombardi G, Vance ML, Werder KV, Wass J, Giustina A 2002 Acromegaly treatment consensus workshop participants. Guidelines for acromegaly treatment. J Clin Endocrinol Metab 87:4054-4058
48. Melmed S, Casanueva F, Cavagnini F, Chanson P, Frohman LA, Gaillard R, Ghigo E, Ho K, Jaquet P, Kleinberg D, Lamberts S, Laws E, Lombardi G, Sheppard MC, Thorner M, Vance ML, Wass JA, Giustina A 2005 Consensus statement: medical management of acromegaly. Eur J Endocrinol 153:737-740 (Pubitemid 43020222)
49. Dimaraki EV, Jaffe CA, DeMott-Friberg R, Chandler WF, Barkan AL 2002 Acromegaly with apparently normal GH secretion: implications for diagnosis and follow-up. J Clin Endocrinol Metab 87:3537-3542 (Pubitemid 34879493)
50. Pokrajac A, Wark G, Ellis AR, Wear J, Wieringa GE, Trainer PJ 2007 Variation in GH and IGF-I assays limits the applicability of international consensus criteria to local practice. Clin Endocrinol (Oxf) 67:65-70 (Pubitemid 46955441)
51. Murray RD, Melmed S 2008 A critical analysis of clinically available somatostatin analog formulations for therapy of acromegaly. J Clin Endocrinol Metab 93:2957-2968