Skip to main content

Growth Hormone and IGF-1

Reviews in Endocrine and Metabolic Disorders volume 5, pages 15–23 (2004)Cite this article

This is a preview of subscription content, access via your institution.

Access options

Buy single article

Instant access to the full article PDF.

43,34 €

Price includes VAT (Finland)
Tax calculation will be finalised during checkout.

References

  1. Muller EE, Locatelli V, Cocchi D. 1999 Neuroendocrine control of growth hormone secretion. Physiol Rev 1999;79:511-607.

    Google Scholar 

  2. Kojima M, Hosoda H, Date Y, Kakazato M, Matsuo H, Kangawa K. Ghrelin is a growth hormone-releasing acylated peptide from stomach. Nature 1999;402:656-660.

    Google Scholar 

  3. Sum Y, Ahmed S, Smith RG. Generation and characterization of ghrelin knock out mice. In: Proceedings of the 84th Annual Meeting of The Endocrine Society, San Francisco, CA June 19–22, 2002 Abs P1-174.

  4. Lindsay R, Feldkamp M, Harris D, Robertson J, Rallison M. Utah growth study: Growth standards and the prevalence of growth hormone deficiency. J Pediatr 1994;125:29-35.

    Google Scholar 

  5. Cacciari E, Zucchini S, Carla G, Pirazzoli P, Cicognani A, Mandini M, Busacca M, Trevisan C. Endocrine function and morphological findings in patients with disorders of the hypothalamo-pituitary area: A study with magnetic resonance. Arch Dis Child 1990;65:1199-1202.

    Google Scholar 

  6. Hamilton J, Blaser S, Daneman D. MR imaging in idiopathic growth hormone deficiency. Am J Neuroradiol 1998;19:1609-1615.

    Google Scholar 

  7. Cogan JD, Phillips JA III. Growth disorders caused by genetic defects in the growth hormone pathway GH deficiency. Barness LA, Morron III G, Rudolph AM, De Vivo DC, Kabace MM, Tunnessen WW, Jr. eds. Advances in Pediatrics Mosby St. Louis, 1998:337-361.

  8. Perez Jurado LA, Phillips JA III, Francke U. Exclusion of growth hormone-releasing hormone gene mutations in familial isolated growth hormone deficiency by linkage and single strand conformation analysis. J Clin Endocrinol Metab 1994;78:622-628.

    Google Scholar 

  9. Thomas PQ, Dattani MT, Brickman JM, McNay D, Warne G, Zacharin M, Cameron F, Hurst J, Woods K, Dunger D, Stanhope R, Forrest S, Robinson IC, Beddington RS. Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. Hum Mol Genet 2001;10:39-45

    Google Scholar 

  10. Rappold GA, Fukami M, Niesler B, Schiller S, Zumkeller W, Bettendorf M, Heinrich U, Vlachopapadoupoulou E, Reinehr T, Onigata K, Ogata T. Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. J Clin Endocrinol Metab 2002;87:1402-1406.

    Google Scholar 

  11. DeAlmeida VI, Mayo KE. Identification of binding domains of the growth hormone-releasing hormone receptor by analysis of mutant and chimeric receptor proteins. Mol Endocrinol 1998;12:750-765.

    Google Scholar 

  12. Lin SC, Lin CR, Gukovsky I, Lusis AJ, Sawchenko PE, Rosenfeld MG. Molecular basis of the little mouse phenotype and implications for cell-type specific growth. Nature 1993;364:208-213

    Google Scholar 

  13. Godfrey P, Rahal JO, Beamer WG Copeland NG, Jenkins NA, Mayo KE. GHRHR of little mice contains a missense mutation in the extracellular domain that disrupts receptor function. Nature Genetics 1993;4:227-232.

    Google Scholar 

  14. Wajnrajch MP, Gertner JM, Harbison MD, Chua SC Jr, Leibel RL. Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse. Nature Genetics 1996;12:88-90.

    Google Scholar 

  15. Maheshwari HG, Silverman BL, Dupuis J Baumann G. Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: Dwarfism of Sindh. J Clin Endocrinol Metab 1998;83:4065-4074.

    Google Scholar 

  16. Netchine I, Talon P, Dastot F, Vitaux F, Goosens M, Amselem S. Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GHReleasing hormone receptor gene. J Clin Endocrinol Metab 1998;83:432-436.

    Google Scholar 

  17. Salvatori R, Hayashida CY, Aguilar-Oliveira MH, Phillips JA 3rd, Souza AH, Gondo RG, Toledo SP, Conceicão MM, Prince M, Maheshwari HG, Baumann G, Levine MA. Familial dwarfism due to a novel mutation in the growth hormone-releasing hormone receptor. J Clin Endocrinol Metab 1999;84:917-923.

    Google Scholar 

  18. Salvatori R, Fan X, Phillips III JA, Espigares-Martin R, Martin de Lara I, Freeman K, Plotnick L, Al-Ashwal A Levine MA. Three new mutations in the gene for the growth hormone (GH)-releasing hormone receptor in familial isolated GH deficiency type IB. J Clin Endocrinol Metab 2001;86:273-279.

    Google Scholar 

  19. Salvatori R, Fan X, Phillips III JA, Prince M, Levine MA. Isolated growth hormone (GH) deficiency due to compound heterozygosity for 2 new mutations in the GH releasing hormone receptor gene. Clin Endocrinol (Oxf) 2001;54:681-688.

    Google Scholar 

  20. Salvatori R, Fan X, Mullis PE, Haile A, Levine MA. Decreased expression of the growth hormone-releasing hormone receptor gene due to a mutation in a Pit-1 binding site. Mol Endocrinol 2002;16:450-458.

    Google Scholar 

  21. Salvatori R, Fan X, Veldhuis J, Couch R. Serum GH response to pharmacological stimuli and physical exercise in two siblings with two new inactivating mutations in the GHReleasing hormone receptor gene. Eur J Endocrinol 2002;147:591-596.

    Google Scholar 

  22. Carakushansky M, Whatmore AJ, Clayton PE, Shalet SN, Gleeson HK, Price DA, Levine MA, Salvatori R. A new missense mutation in the growth hormone releasing hormone receptor gene in familial isolated GH deficiency. Eur J Endocrinol 2003;148:25-30.

    Google Scholar 

  23. Roelfsema F, Biermasz NR, Veldman RG, Veldhuis JD, Frolich M, Stokvis-Brantsma WH, Wit JM. Growth hormone (GH) secretion in patients with an inactivating defect of the GH Releasing hormone (GHRH) receptor is pulsatile: Evidence for a role for non-GHRH inputs into the generation of GH pulses. J Clin Endocrinol Metab 2001;86:2459-2464.

    Google Scholar 

  24. Horikawa R. Isolated GH deficiency due to inactivating mutation of GHRH receptor. Nippon Rinsho 2002;60:297-305.

    Google Scholar 

  25. Gondo RG, Aguiar-Oliveira MH, Hayashida CY, Toledo SPA, Abelin N, Levine MA, Bowers CY, Souza AHO, Pereira RMC, Santos NL, Salvatori R. Growth hormone (GH)-releasing peptide-2 stimulates GH secretion in GH deficient patients with mutated GH Releasing hormone receptor. J Clin Endocrinol Metab 2001;86:3279-3283.

    Google Scholar 

  26. Barreto-Filho JA, Alcântara MRS, Salvatori R, Azevedo M, Barreto M, Sousa AC, Bastos VPC, Souza AHO, Pereira RMC, Clayton PE, Gill MS, Aguiar-Oliveira MH. Familial isolated growth hormone deficiency is associated with increased systolic blood pressure, dyslipidemia and central obesity. J Clin Endocrinol Metab 2002;87:2018-2023.

    Google Scholar 

  27. Maheshwari HG, Pezzoli SS, Rahim A, Shalet SM, Thorner MO, Baumann G. Pulsatile growth hormone secretion persists in genetic growth hormone-releasing hormone resistance. Am J Physiol: Endocrinol Metab 2002;282:E943-E951.

    Google Scholar 

  28. Oliveira HA, Salvatori R, Krauss MPO, Oliveira CRP, Silva PRC, Aguiar-Oliveira MH. Magnetic resonance imaging study of pituitary morphology in subjects homozygous and heterozygous for a null mutation of the growth hormone releasing hormone receptor gene. Eur J Endocrinol 2003;148:427-432.

    Google Scholar 

  29. Murray RA, Maheshwari HG, Russell EJ, Baumann G. Pituitary hypoplasia in patients with a mutation in the growth hormone-releasing hormone receptor gene. Am J Neuroradiol 2000;21:685-689.

    Google Scholar 

  30. Salvatori R, Aguiar-Oliveira MH, Monte LVB, Hedges L, Santos NL, Pereira RMC, Phillips III JA. Detection of a recurring mutation in the human GH releasing hormone receptor gene. Clin Endocrinol (Oxf) 2002;57:77-80.

    Google Scholar 

  31. Zhu T, Goh EL, Graichen R, Ling L, Lobie PE. Signal transduction via the growth hormone receptor. Cell Signal 2001;13:599-616.

    Google Scholar 

  32. Wagner JK, Eble A, Hindmarsh PC, Mullis PE. Prevalence of human GH-1 alterations in patients with isolated growth hormone deficiency. Pediatr Res 1998;43:105-110.

    Google Scholar 

  33. Fofanova OV, Evgrafov OV, Polyakov AV, Poltaraus AB, Peterkova VA, Dedov II. A novel IVS2 — 2A > T splicing mutation in the GH-1 gene in familial isolated growth hormone deficiency type II in the spectrum of other splicing mutations in the Russian population. J Clin Endocrinol Metab 2003;88:820-826.

    Google Scholar 

  34. Phillips JA 3rd, Hjelle BL, Seeburg PH, Zachmann M. Molecular basis for familial isolated growth hormone deficiency. Proc Natl Acad Sci USA 1981;78:6372-6375.

    Google Scholar 

  35. Vnencak-Jones CL, Phillips JA 3rd. Hot spots for growth hormone gene deletions in homologous regions outside of Alu repeats. Science 1990;250:1745-1748.

    Google Scholar 

  36. Moseley CT, Mullis PE, Prince MA, Phillips JA 3rd. An exon splice enhancer mutation causes autosomal dominant GH deficiency. J Clin Endocrinol Metab 2002;87:847-852.

    Google Scholar 

  37. Lee MS, Wajnrajch MP, Kim SS, Plotnick LP, Wang J, Gertner JM, Leibel RL, Dannies PS. Autosomal dominant growth hormone (GH) deficiency type II: The Del32-71-GH deletion mutant suppresses secretion of wild-type GH. Endocrinology 2000;141:883-890.

    Google Scholar 

  38. McGuinness L, Magoulas C, Sesay AK, Mathers K, Carmignac D, Manneville JB, Christian H, Phillips JA 3rd, Robinson IC. Autosomal dominant growth hormone deficiency disrupts secretory vesicles in vitro and in vivo in transgenic mice. Endocrinology 2003;144:720-731.

    Google Scholar 

  39. Zucchini S, Ambrosetto P, Baroncini C, Cacciari E. Normal pituitary size in two patients with growth hormone gene deletion. J Ped Endocrinol Metab 1996;9:545-548.

    Google Scholar 

  40. Binder G, Nagel BH, Ranke MB, Mullis PE. Isolated GH deficiency (IGHD) type II: Imaging of the pituitary gland by magnetic resonance reveals characteristic differences in comparison with severe IGHD of unknown origin. Eur J Endocrinol 2002;147:755-760.

    Google Scholar 

  41. Millar DS, Lewis MD, Horan M, Newsway V, Easter TE, Gregory JW, Fryklund L, Norin M, Crowne EC, Davies SJ, Edwards P, Kirk J, Waldron K, Smith PJ, Phillips JA 3rd, Scanlon MF, Krawczak, M, Cooper DN, Procter AM Novel mutations in the growth hormone (GH1) gene disclosed by modulation in the clinical selection criteria for individuals with short stature. Hum Mutat 2003;21:424-440.

    Google Scholar 

  42. Kowarski AA, Schneider J, Ben-Galim E, Weldon VV, Daughaday WH. Growth failure with normal serum RIA-GH and low somatomedin activity: Somatomedin restoration and growth acceleration after exogenous GH. J Clin Endocrinol Metab 1978;47:461-464.

    Google Scholar 

  43. Takahashi Y, Shirono H, Arisaka O, Takahashi K, Yagi T, Koga J, Kaji H, Okimura Y, Abe H, Tanaka T, Chihara K. Biologically inactive growth hormone caused by an amino acid substitution. J Clin Invest 1997;100:1159-1165.

    Google Scholar 

  44. Takahashi Y, Kaji H, Okimura Y, Goji K, Abe H, Chihara K. Brief report: Short stature caused by a mutant growth hormone. N Engl J Med 1996;334:432-436.

    Google Scholar 

  45. Leung DW, Spencer SA, Cachianes G, Hammonds RG, Collins C, Henzel WJ, Barnard R, Waters MJ, Wood WI. Growth hormone receptor and serum binding protein: Purification, cloning and expression. Nature 1987;330:537-543.

    Google Scholar 

  46. Godowski PJ, Leung DW, Meacham LR, Galgani JP, Hellmiss R, Keret R, Rotwein PS, Parks JS, Laron Z, Wood WI. 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 1989;86:8083-8087.

    Google Scholar 

  47. Laron Z, Pertzelan A, Mannheimer S. Genetic pituitary dwarfism with high serum concentration of growth hormone-A new inborn error of metabolism? Isr J Med Sci 1966;2:152-155.

    Google Scholar 

  48. Wojcik J, Berg MA, Esposito N, Geffner ME, Sakati N, Reiter EO, Dower S, Francke U, Postel-Vinay MC, Finidori J. Four contiguous amino acid substitutions, identified in patients with Laron syndrome, differently affect the binding affinity and intracellular trafficking of the growth hormone receptor. J Clin Endocrinol Metab 1998;83:4481-4489.

    Google Scholar 

  49. Metherell LA, Akker SA, Munroe PB, Rose SJ, Caulfield M, Savage MO, Chew SL, Clark AJ. Pseudoexon activation is a novel mechanism for disease resulting in atypical growth-hormone insensitivity. Am J Hum Genet 2001;69:641-646.

    Google Scholar 

  50. Ayling RM, Ross R, Towner P, Von Laue S, Finidori J, Moutoussamy S, Buchanan CR, Clayton PE, Norman MR. A dominant-negative mutation of the growth hormone receptor causes familial short stature. Nat Genet 1997;16:13-14.

    Google Scholar 

  51. Laron Z. The essential role of IGF-I: Lessons from the long-term study and treatment of children and adults with Laron syndrome. J Clin Endocrinol Metab 1999;84:4397-4404.

    Google Scholar 

  52. Woods KA, Dastot F, Preece MA, Clark AJ, Postel-Vinay MC, Chatelain PG, Ranke MB, Rosenfeld RG, Amselem S, Savage MO. Phenotype: Genotype relationships in growth hormone insensitivity syndrome. J Clin Endocrinol Metab 1997;82:3529-3535.

    Google Scholar 

  53. Rosenfeld RG, Rosenbloom AL, Guevara-Aguirre J. Growth hormone (GH) insensitivity to primary GH receptor deficiency. Endocrine Rev 1995;15:369-390.

    Google Scholar 

  54. Kornreich L, Horev G, Schwarz M, Karmazyn B, Laron Z. Pituitary size in patients with Laron syndrome (primary GH insensitivity). Eur J Endocrinol 2003;148:339-341.

    Google Scholar 

  55. Salerno M, Balestrieri B, Matrecano E, Officioso A, Rosenfeld RG, Di Maio S, Fimiani G, Ursini MV, Pignata C. Abnormal GH receptor signaling in children with idiopathic short stature. J Clin Endocrinol Metab 2001;86:3882-3888.

    Google Scholar 

  56. Rosenbloom AL, Guevara-Aguirre J, Berg MA, Francke U. Stature in Ecuadorians heterozygous for growth hormone receptor gene E180 splice mutation does not differ from that of homozygous normal relatives. J Clin Endocrinol Metab 1998;83:2373-2375.

    Google Scholar 

  57. Kofoed EM, Hwa V, Little B, Woods KA, Buckway CK, Tsubaki J, Pratt KL, Bezronik L, Jasper H, Tepper A, Heinrich JJ, Rosenfeld RG Growth hormone insensitivity associated with STAT5b mutation. N Engl J Med 2003;349:1139-1147.

    Google Scholar 

  58. Woods KA, Camacho-Hubner C, Savage MO, Clark AJ. Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene. N Engl J Med 1996;335:1363-1367.

    Google Scholar 

  59. Camacho-Hubner C, Woods KA, Miraki-Moud F, Hindmarsh PC, Clark AJ, Hansson Y, Johnston A, Baxter RC, Savage MO. Effects of recombinant human insulin-like growth factor I (IGF-I) therapy on the growth hormone-IGF system of a patient with a partial IGF-I gene deletion. J Clin Endocrinol Metab 1999;84:1611-1616.

    Google Scholar 

  60. De Lacerda L, Carvalho JA, Stannard B, Wener H, Boguzewski MC, Sandrini R, Malozowski SN, Leroith D, Underwood LE. In vitro and in vivo responses to short-term recombinant human insulin-like growth factor-1 (IGF-I) in a severely growth-retarded girl with ring chromosome 15 and deletion of a single allele for the type 1 IGF receptor gene. Clin Endocrinol (Oxf) 1999;51:541-550.

    Google Scholar 

  61. Abuzzahab MJ, Goddard A, Grigorescu F, Lautier C, Smith RJ, Chernausek SD. Human IGF-1 receptor mutations associated with intrauterine and post-natal growth retardation. In: Proceedings of the 82nd Annual Meeting of the Endocrine Society, Toronto Canada, 2000 Abs 1947.

  62. Kawashima Y, Kinoshita T, Hanaki K, Nagaishi J, Nagata I, Nozaki Y, Ohtsuka Y, Hisatome I, Ninomiya H, Nanba E, Kanzaki S. In: Proceedings of the 85th Annual Meeting of the Endocrine Society, Philadelphia PA, 2003 Abs P2-359.

Download references

Author information

Affiliations

  1. Department of Medicine, Division of Endocrinology, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA

    Roberto Salvatori

Authors
  1. Roberto Salvatori
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Salvatori, R. Growth Hormone and IGF-1. Rev Endocr Metab Disord 5, 15–23 (2004). https://doi.org/10.1023/B:REMD.0000016121.58762.6d

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1023/B:REMD.0000016121.58762.6d

  • GH deficiency
  • GH resistance
  • mutations
  • genes