The Insulin-Like Growth Factors and Growth Disorders of Childhood

Endocrinology and Metabolism Clinics of North America

Volumn 41, Issue 2, 2012, Pages 265-282

  Backeljauw, Philippe F ^a   Chernausek, Steven D ^b  

^a UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

Author keywords

GH receptor deficiency; Growth hormone; Insulin like growth factor; Recombinant human insulin like growth factor treatment; Short stature

Indexed keywords

GLUCOSE; GROWTH HORMONE; GROWTH HORMONE RECEPTOR; JANUS KINASE 2; MECASERMIN RINFABATE; MITOGEN ACTIVATED PROTEIN KINASE 1; PHOSPHATIDYLINOSITOL 3 KINASE; PLACEBO; RECOMBINANT SOMATOMEDIN C; RINFABATE; SOMATOMEDIN; SOMATOMEDIN BINDING PROTEIN 3; STAT PROTEIN; STAT5B PROTEIN; THYROTROPIN; THYROXINE;

ACROMEGALY; AMYOTROPHIC LATERAL SCLEROSIS; CHILD GROWTH; CLINICAL FEATURE; CONDUCTION DEAFNESS; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; DOSE RESPONSE; DRUG APPROVAL; DRUG DOSE INCREASE; DRUG EFFICACY; DRUG HALF LIFE; DRUG INDUCED HEADACHE; DRUG SAFETY; ENZYME ACTIVATION; GENE; GENE LOCATION; GENE MUTATION; GENETIC TRANSCRIPTION; GHR GENE; GLUCOSE BLOOD LEVEL; GROWTH DISORDER; HORMONAL THERAPY; HORMONE BINDING; HORMONE DEFICIENCY; HORMONE RELEASE; HORMONE RESISTANCE; HORMONE SYNTHESIS; HUMAN; HYPOGLYCEMIA; HYPOPHYSIS; HYPOTHALAMUS; HYPOTHYROIDISM; IDIOPATHIC DISEASE; IGF1 GENE; IMMUNOASSAY; INTRACRANIAL HYPERTENSION; INTRACRANIAL PRESSURE; KIDNEY SIZE; LARON SYNDROME; LIPOHYPERTROPHY; MONOTHERAPY; OTITIS MEDIA; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN DEFICIENCY; PROTEIN DOMAIN; PROTEIN FUNCTION; REVIEW; SHORT STATURE; SIDE EFFECT; SIGNAL TRANSDUCTION; SILVER RUSSELL SYNDROME; SINGLE DRUG DOSE; SNORING; SOMATOMEDIN DEFICIENCY; SPLEEN SIZE; TREATMENT INDICATION; TREATMENT RESPONSE;

CHILD; FEMALE; GROWTH DISORDERS; HUMANS; INSULIN-LIKE GROWTH FACTOR BINDING PROTEINS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; LARON SYNDROME; MALE; RECOMBINANT PROTEINS; SOMATOMEDINS; TREATMENT OUTCOME;

EID: 84861977609     PISSN: 08898529     EISSN: 15584410     Source Type: Journal    
DOI: 10.1016/j.ecl.2012.04.010     Document Type: Review

References (84)

1. Rosenbloom A.L. Recombinant human insulin-like growth factor-1 treatment: prime time or timeout? [Commentary on " Recombinant human insulin like growth factor-1 treatment: ready for prime time" by Bright GM, Mendoza JR, Rosenfeld RG, Endocrinol Metab Clin North Am 2009; 38:625-38]. Int J Pediatr Endocrinol 2009, 2009:429684.
2. Leung D.W., Spencer S.A., Cachianes G., et al. Growth hormone receptor and serum binding protein: purification, cloning and expression. Nature 1987, 330(6148):537-543.
3. Waters M.J., Hoang H.N., Fairlie D.P., et al. New insights into growth hormone action. J Mol Endocrinol 2006, 36(1):1-7.
4. Savage M.O., Attie K.M., David A., et al. Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders. Nat Clin Pract Endocrinol Metab 2006, 2(7):395-407.
5. Laron Z. Insulin-like growth factor-I treatment of children with Laron syndrome (primary growth hormone insensitivity). Pediatr Endocrinol Rev 2008, 5(3):766-771.
6. Duquesnoy P., Sobrier M.L., Duriez B., et al. A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization. EMBO J 1994, 13(6):1386-1395.
7. Woods K.A., Fraser N.C., Postel-Vinay M.C., et al. A homozygous splice site mutation affecting the intracellular domain of the growth hormone (GH) receptor resulting in Laron syndrome with elevated GH-binding protein. J Clin Endocrinol Metab 1996, 81(5):1686-1690.
8. Milward A., Metherell L., Maamra M., et al. Growth hormone (GH) insensitivity syndrome due to a GH receptor truncated after Box1, resulting in isolated failure of STAT 5 signal transduction. J Clin Endocrinol Metab 2004, 89(3):1259-1266.
9. Rosenfeld R.G., Belgorosky A., Camacho-Hubner C., et al. Defects in growth hormone receptor signaling. Trends Endocrinol Metab 2007, 18(4):134-141.
10. Hwa V., Little B., Adiyaman P., et al. Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b. J Clin Endocrinol Metab 2005, 90(7):4260-4266.
11. Kofoed E.M., Hwa V., Little B., et al. Growth hormone insensitivity associated with a STAT5b mutation. N Engl J Med 2003, 349(12):1139-1147.
12. Fang P., Kofoed E.M., Little B.M., et al. A mutant signal transducer and activator of transcription 5b, associated with growth hormone insensitivity and insulin-like growth factor-I deficiency, cannot function as a signal transducer or transcription factor. J Clin Endocrinol Metab 2006, 91(4):1526-1534.
13. Vidarsdottir S., Walenkamp M.J., Pereira A.M., et al. Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation. J Clin Endocrinol Metab 2006, 91(9):3482-3485.
14. Hwa V., Camacho-Hubner C., Little B.M., et al. Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene. Horm Res 2007, 68(5):218-224.
15. Bernasconi A., Marino R., Ribas A., et al. Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation. Pediatrics 2006, 118(5):e1584-e1592.
16. Pugliese-Pires P.N., Tonelli C.A., Dora J.M., et al. A novel STAT5B mutation causing GH insensitivity syndrome associated with hyperprolactinemia and immune dysfunction in two male siblings. Eur J Endocrinol 2010, 163(2):349-355.
17. Woods K.A., Camacho-Hubner C., Savage M.O., et al. 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.
18. Bonapace G., Concolino D., Formicola S., et al. A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency. J Med Genet 2003, 40(12):913-917.
19. Netchine I., Azzi S., Houang M., et al. Partial primary deficiency of insulin-like growth factor (IGF)-I activity associated with IGF1 mutation demonstrates its critical role in growth and brain development. J Clin Endocrinol Metab 2009, 94(10):3913-3921.
20. Walenkamp M.J., Karperien M., Pereira A.M., et al. Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation. J Clin Endocrinol Metab 2005, 90(5):2855-2864.
21. Domene H.M., Bengolea S.V., Martinez A.S., et al. Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene. N Engl J Med 2004, 350(6):570-577.
22. David A., Rose S.J., Miraki-Moud F., et al. Acid-labile subunit deficiency and growth failure: description of two novel cases. Horm Res Paediatr 2010, 73(5):328-334.
23. Domene H.M., Hwa V., Argente J., et al. Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences. Horm Res 2009, 72(3):129-141.
24. Domene H.M., Scaglia P.A., Lteif A., et al. Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations. J Clin Endocrinol Metab 2007, 92(11):4444-4450.
25. Fofanova-Gambetti O.V., Hwa V., Kirsch S., et al. Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins. Horm Res 2009, 71(2):100-110.
26. Heath K.E., Argente J., Barrios V., et al. Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia. J Clin Endocrinol Metab 2008, 93(5):1616-1624.
27. Hwa V., Haeusler G., Pratt K.L., et al. Total absence of functional acid labile subunit, resulting in severe insulin-like growth factor deficiency and moderate growth failure. J Clin Endocrinol Metab 2006, 91(5):1826-1831.
28. van Duyvenvoorde H.A., Kempers M.J., Twickler T.B., et al. Homozygous and heterozygous expression of a novel mutation of the acid-labile subunit. Eur J Endocrinol 2008, 159(2):113-120.
29. Fofanova-Gambetti O.V., Hwa V., Wit J.M., et al. Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium. J Clin Endocrinol Metab 2010, 95(9):4184-4191.
30. Edouard T., Grunenwald S., Gennero I., et al. Prevalence of IGF1 deficiency in prepubertal children with isolated short stature. Eur J Endocrinol 2009, 161(1):43-50.
31. Ranke M.B., Schweizer R., Elmlinger M.W., et al. Significance of basal IGF-I, IGFBP-3 and IGFBP-2 measurements in the diagnostics of short stature in children. Horm Res 2000, 54(2):60-68.
32. Van Meter Q, Midyett LK, Deeb L, et al. Prevalence of primary IGFD among untreated children with short stature in a prospective, multi-center study [abstract 715]. Proceedings of International Congress of Endocrinology. Rio de Janiero (Brazil), November, 2008.
33. Goddard A.D., Covello R., Luoh S.M., et al. Mutations of the growth hormone receptor in children with idiopathic short stature. N Engl J Med 1995, 33:1093-1098.
34. Cohen P., Germak J., Rogol A.D., et al. Variable degree of growth hormone (GH) and insulin-like growth factor (IGF) sensitivity in children with idiopathic short stature compared with GH-deficient patients: evidence from an IGF-based dosing study of short children. J Clin Endocrinol Metab 2010, 95(5):2089-2098.
35. Eggermann T. Russell-Silver syndrome. Am J Med Genet C Semin Med Genet 2010, 154C(3):355-364.
36. Gicquel C., Rossignol S., Cabrol S., et al. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet 2005, 37(9):1003-1007.
37. Binder G., Seidel A.K., Weber K., et al. IGF-II serum levels are normal in children with Silver-Russell syndrome who frequently carry epimutations at the IGF2 locus. J Clin Endocrinol Metab 2006, 91(11):4709-4712.
38. Binder G., Seidel A.K., Martin D.D., et al. The endocrine phenotype in silver-russell syndrome is defined by the underlying epigenetic alteration. J Clin Endocrinol Metab 2008, 93(4):1402-1407.
39. Abuzzahab M.J., Schneider A., Goddard A., et al. IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation. N Engl J Med 2003, 349(23):2211-2222.
40. Fang P., Schwartz I.D., Johnson B.D., et al. Familial short stature caused by haploinsufficiency of the insulin-like growth factor I receptor due to nonsense-mediated messenger ribonucleic acid decay. J Clin Endocrinol Metab 2009, 94(5):1740-1747.
41. Inagaki K., Tiulpakov A., Rubtsov P., et al. A familial IGF-1 receptor mutant leads to short stature: clinical and biochemical characterization. J Clin Endocrinol Metab 2007, 92:1542-1548.
42. Kawashima Y., Kanzaki S., Yang F., et al. Mutation at cleavage site of IGF receptor in a short stature child born with intrauterine growth retardation. J Clin Endocrinol Metab 2005, 90:4679-4687.
43. Kruis T., Klammt J., Galli-Tsinopoulou A., et al. Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intrauterine and postnatal growth retardation. J Clin Endocrinol Metab 2010, 95(3):1137-1142.
44. Walenkamp M.J., van der Kamp H.J., Pereira A.M., et al. A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor I receptor. J Clin Endocrinol Metab 2006, 91(8):3062-3070.
45. Wallborn T., Wuller S., Klammt J., et al. A heterozygous mutation of the insulin-like growth factor-I receptor causes retention of the nascent protein in the endoplasmic reticulum and results in intrauterine and postnatal growth retardation. J Clin Endocrinol Metab 2010, 95(5):2316-2324.
46. Choi J.H., Kang M., Kim G.H., et al. Clinical and functional characteristics of a novel heterozygous mutation of the IGF1R gene and IGF1R haploinsufficiency due to terminal 15q26.2->qter deletion in patients with intrauterine growth retardation and postnatal catch-up growth failure. J Clin Endocrinol Metab 2011, 96(1):E130-E134.
47. Sundararajan S, Banach W, Chernausek SD. Defective glucose homeostasis in a child with a genetically-acquired function defect in the IGF-I receptor [abstract 432]. Proceedings of the Pediatric Societies' Annual Meeting 2004.
48. Kulkarni R.N., Holzenberger M., Shih D.Q., et al. beta-cell-specific deletion of the Igf1 receptor leads to hyperinsulinemia and glucose intolerance but does not alter beta-cell mass. Nat Genet 2002, 31(1):111-115.
49. Liu J.-P., Baker J., Perkins A.S., et al. Mice carrying null mutations of the genes encoding insulin-like growth factor I (Igf-1) and the type 1 IGF receptor (Igf1r). Cell 1993, 75:59-72.
50. Frystyk J., Freda P., Clemmons D.R. The current status of IGF-I assays-a 2009 update. Growth Horm IGF Res 2010, 20(1):8-18.
51. Brabant G., von zur Muhlen A., Wuster C., et al. Serum insulin-like growth factor I reference values for an automated chemiluminescence immunoassay system: results from a multicenter study. Horm Res 2003, 60(2):53-60.
52. Frystyk J. Utility of free IGF-I measurements. Pituitary 2007, 10(2):181-187.
53. Yakar S., Liu J.L., Stannard B., et al. Normal growth and development in the absence of hepatic insulin-like growth factor I. Proc Natl Acad Sci U S A 1999, 96(13):7324-7329.
54. Yakar S., Rosen C.J., Beamer W.G., et al. Circulating levels of IGF-1 directly regulate bone growth and density. J Clin Invest 2002, 110(6):771-781.
55. Cianfarani S., Liguori A., Germani D. IGF-I and IGFBP-3 assessment in the management of childhood onset growth hormone deficiency. Endocr Dev 2005, 9:66-75.
56. Hauffa B.P., Lehmann N., Bettendorf M., et al. Central laboratory reassessment of IGF-I, IGF-binding protein-3, and GH serum concentrations measured at local treatment centers in growth-impaired children: implications for the agreement between outpatient screening and the results of somatotropic axis functional testing. Eur J Endocrinol 2007, 157(5):597-603.
57. Kamp G.A., Zwinderman A.H., Van Doorn J., et al. Biochemical markers of growth hormone (GH) sensitivity in children with idiopathic short stature: individual capacity of IGF-I generation after high-dose GH treatment determines the growth response to GH. Clin Endocrinol (Oxf) 2002, 57(3):315-325.
58. Dahlgren J., Kristrom B., Niklasson A., et al. Models predicting the growth response to growth hormone treatment in short children independent of GH status, birth size and gestational age. BMC Med Inform Decis Mak 2007, 7:40.
59. Kristrom B., Jansson C., Rosberg S., et al. Growth response to growth hormone (GH) treatment relates to serum insulin-like growth factor I (IGF-I) and IGF-binding protein-3 in short children with various GH secretion capacities. Swedish Study Group for Growth Hormone Treatment. J Clin Endocrinol Metab 1997, 82(9):2889-2898.
60. Schonau E., Westermann F., Rauch F., et al. A new and accurate prediction model for growth response to growth hormone treatment in children with growth hormone deficiency. Eur J Endocrinol 2001, 144(1):13-20.
61. Cohen P., Rogol A.D., Deal C.L., et al. Consensus statement on the diagnosis and treatment of children with idiopathic short stature: a summary of the Growth Hormone Research Society, the Lawson Wilkins Pediatric Endocrine Society, and the European Society for Paediatric Endocrinology Workshop. J Clin Endocrinol Metab 2008, 93(11):4210-4217.
62. Cohen P., Rogol A.D., Howard C.P., et al. Insulin growth factor-based dosing of growth hormone therapy in children: a randomized, controlled study. J Clin Endocrinol Metab 2007, 92(7):2480-2486.
63. Hankinson S.E., Willett W.C., Colditz G.A., et al. Circulating concentrations of insulin-like growth factor-I and risk of breast cancer. Lancet 1998, 351(9113):1393-1396.
64. Guevara-Aguirre J., Balasubramanian P., Guevara-Aguirre M., et al. Growth hormone receptor deficiency is associated with a major reduction in pro-aging signaling, cancer, and diabetes in humans. Sci Transl Med 2011, 3(70):70ra13.
65. Samani A.A., Yakar S., LeRoith D., et al. The role of the IGF system in cancer growth and metastasis: overview and recent insights. Endocr Rev 2007, 28(1):20-47.
66. Grahnen A., Kastrup K., Heinrich U., et al. Pharmacokinetics of recombinant human insulin-like growth factor I given subcutaneously to healthy volunteers and to patients with growth hormone receptor deficiency. Acta Paediatr Suppl 1993, 82(Suppl 391):9-13. [discussion: 14].
67. Camacho-Hubner C., Rose S., Preece M.A., et al. Pharmacokinetic studies of recombinant human insulin-like growth factor I (rhIGF-I)/rhIGF-binding protein-3 complex administered to patients with growth hormone insensitivity syndrome. J Clin Endocrinol Metab 2006, 91(4):1246-1253.
68. Backeljauw P.F., Underwood L.E. Therapy for 6.5-7.5 years with recombinant insulin-like growth factor I in children with growth hormone insensitivity syndrome: a clinical research center study. J Clin Endocrinol Metab 2001, 86(4):1504-1510.
69. Chernausek S.D., Backeljauw P.F., Frane J., et al. Long-term treatment with recombinant insulin-like growth factor (IGF)-I in children with severe IGF-I deficiency due to growth hormone insensitivity. J Clin Endocrinol Metab 2007, 92(3):902-910.
70. Guevara-Aguirre J., Rosenbloom A.L., Vasconez O., et al. Two-year treatment of growth hormone (GH) receptor deficiency with recombinant insulin-like growth factor I in 22 children: comparison of two dosage levels and to GH-treated GH deficiency. J Clin Endocrinol Metab 1997, 82(2):629-633.
71. Guevara-Aguirre J., Vasconez O., Martinez V., et al. A randomized, double blind, placebo-controlled trial on safety and efficacy of recombinant human insulin-like growth factor-I in children with growth hormone receptor deficiency. J Clin Endocrinol Metab 1995, 80(4):1393-1398.
72. Klinger B., Laron Z. Three year IGF-I treatment of children with Laron syndrome. J Pediatr Endocrinol Metab 1995, 8(3):149-158.
73. Ranke M.B., Savage M.O., Chatelain P.G., et al. Long-term treatment of growth hormone insensitivity syndrome with IGF-I. Results of the European Multicentre Study. The Working Group on Growth Hormone Insensitivity Syndromes. Horm Res 1999, 51(3):128-134.
74. Laron Z., Ginsberg S., Lilos P., et al. Long-term IGF-I treatment of children with Laron syndrome increases adiposity. Growth Horm IGF Res 2006, 16(1):61-64.
75. Backeljauw PF, Calikoglu AS, Kuntze J, et al. Final and near-final adult height in patients with severe primary insulin-like growth factor-I deficiency after long-term treatment with recombinant human insulin-like growth factor-I (rhIGF-I). Paper presented at: Combined Meeting of Lawson Wilkens Pediatric Endocrine Society and European Society for Pediatric Endocrinology. New York, September, 2009.
76. Ranke M.B. Treatment of growth hormone insensitivity syndrome (GHIS) with insulin-like growth factor (IGF-I). Growth hormone resistance 1996, 401-410. Bailliere-Tindall, London. R.J. Ross, M.O. Savage (Eds.).
77. Camacho-Hubner C, Underwood LE, Yordam N, et al. Once daily rhIGF-1/rhIGFBP-3 treatment improves growth in children with severe primary IGF-I deficiency: results of a multicenter clinical trial. Paper presented at: Proceedings of the Endocrine Society's 88th Annual Meeting. Boston (MA), June, 2006.
78. Walker J.L., Ginalska-Malinowska M., Romer T.E., et al. Effects of the infusion of insulin-like growth factor I in a child with growth hormone insensitivity syndrome (Laron Dwarfism). N Engl J Med 1991, 324:1483-1488.
79. Kuntze J, Franklin S, Hertz J, et al. Safety of increlex treatment in the IGFD registry. Program and Abstracts of the 90th Annual Meeting of The Endocrine Society. San Francisco (CA), 2008. p. 2-564.
80. Buckway C.K., Guevara-Aguirre J., Pratt K.L., et al. The IGF-I generation test revisited: a marker of GH sensitivity. J Clin Endocrinol Metab 2001, 86(11):5176-5183.
81. Bright GM, Rogers D, Gonzalez-Mendoza L, et al. Safety and efficacy of once-daily rhIGF-I treatment in prepubertal children with primary IGF-I deficiency: results from a clinical trial. Program of the International Congress of Endocrinology. Rio de Janeiro (Brazil), November, 2008. p. 00719.
82. Midyett L.K., Rogol A.D., Van Meter Q.L., et al. Recombinant insulin-like growth factor (IGF)-I treatment in short children with low IGF-I levels: first-year results from a randomized clinical trial. J Clin Endocrinol Metab 2010, 95(2):611-619.
83. Midyett LK, Reiner B, Frane JW, et al. First-year height velocity and safety results from a phase II, randomized, open-label, active-treatment controlled trial of rhGH/rhIGF-1 co-administration in short, prepubertal children with low IGF-1 and normal stimulated GH level. Paper presented at: Endocrine Society Annual Meeting. San Diego (CA), June, 2010.
84. Lango Allen H., Estrada K., Lettre G., et al. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 2010, 467(7317):832-838.