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Growth Hormone Insensitivity Syndrome

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Pediatric Endocrinology

Part of the book series: Contemporary Endocrinology ((COE))

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Abstract

Growth hormone insensitivity (GHI) is defined as the absence of an appropriate growth and metabolic response to endogenous GH or to GH administered at physiologic replacement dosage (1). Table 1 lists the known conditions associated with GH resistance and their clinical and biochemical features. Only GH receptor (GH-R) deficiency (GHRD) and GH-GHR signal transduction defects are appropriately described as primary GH resistance or insensitivity. Inability to generate insulin-like growth factor-I (IGF-I) resulting from mutation of the IGF-I gene (2) and resistance to IGF-I due to mutation of the IGF-I receptor (3) are properly considered primary IGF-I deficiency and IGF-I resistance.

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References

  1. Rosenbloom AL, Guevara-Aguirre J, Rosenfeld RG, Pollock BH. Growth in growth hormone insensitivity. Trends Endocrinol Metab 1994; 5: 296–303.

    Article  PubMed  CAS  Google Scholar 

  2. Woods KA, Camacho-Hübner C, Savage MO, Clark AJL. 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.

    Article  PubMed  CAS  Google Scholar 

  3. Abizzajab MJ, Goddard A, Grigorescu F, Lautier C, Smith RJ, Chernausek SD. Human IGF-I receptor mutations associated with intrauterine and post-natal growth retardation. Proc Endocr Soc 82nd Ann. Mtg 2000 abstract #1947, p. 470.

    Google Scholar 

  4. Rivarola MA, Phillips JA III, Migeon CJ, Heinrich JJ, Hjelle BJ. Phenotypic heterogeneity in familial isolated growth hormone deficiency type I-A. J Clin Endocrinol Metab 1984; 59: 34–40.

    Article  PubMed  CAS  Google Scholar 

  5. Powell DR. Effects of renal failure on the growth hormone-insulin-like growth factor axis. J Pediatr 1997; 131: S13–516

    Article  PubMed  CAS  Google Scholar 

  6. De Groot LJ. Dangerous dogmas in medicine: the nonthyroid illness syndrome. J Clin Endocrinol Metab 1999; 84: 151–164.

    Article  PubMed  Google Scholar 

  7. Rosenfeld RG, Rosenbloom AL, Guevara-Aguirre J. Growth hormone (GH) insensitivity due to primary GH receptor deficiency. Endocr Rev 1994; 15: 369–390.

    PubMed  CAS  Google Scholar 

  8. Postel-Vinay M-C, Kelly PA. Growth hormone receptor signalling. Bailliere’s Clin Endocrinol Metab 1996; 10: 323–326.

    Article  PubMed  CAS  Google Scholar 

  9. Leung DW, Spencer SA, Cachianes G. Growth hormone receptor and serum binding protein: purification, cloning and expression. Nature 1987; 330: 537–543.

    Article  PubMed  CAS  Google Scholar 

  10. Rosenbloom AL. Physiology and disorders of the growth hormone receptor (GHR) and GH-GHR signal transduction. Endocrine 2000; 12 (2): 107–119.

    Article  PubMed  CAS  Google Scholar 

  11. de Vos AM, Ultsch M, Kossiakoff AA. Human growth hormone and extracellular domain of its receptor: crystal structure of the complex. Science 1992; 255: 306–312.

    Article  PubMed  Google Scholar 

  12. Rajaram S, Baylink DJ, Mohan S. Insulin-like growth factor-binding proteins in serum and other biological fluids: regulation and functions. Endocr Rev 1997; 18: 801–831.

    Article  PubMed  CAS  Google Scholar 

  13. Baxter RG, Binoux MA, Clemmons DR, et al. Recommendations for nomenclature of the insulin-like growth factor binding proteins superfamily. J Clin Endocrinol Metab 1998; 83: 3213.

    Article  PubMed  CAS  Google Scholar 

  14. Vaccarello MA, Diamond FB Jr, Guevara-Aguirre J, et al. Hormonal and metabolic effects and pharmacokinetics of recombinant human insulin-like growth factor-I in growth hormone receptor deficiency/Laron syndrome. J Clin Endocrinol Metab 1993; 77: 273–280.

    Article  PubMed  CAS  Google Scholar 

  15. Daughaday WH, Rotwein P. Insulin-like growth factors I and II: peptide, messenger ribonucleic acid and gene structures, serum and tissue concentrations. Endocr Rev 1989; 10: 68–91.

    Article  PubMed  CAS  Google Scholar 

  16. 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.

    PubMed  CAS  Google Scholar 

  17. Laron Z, Pertzelan A, Karp M. Pituitary dwarfism with high serum levels of growth hormone. Isr J Med Sci 1968; 4: 83–94.

    Google Scholar 

  18. Merimee TJ, Hall J, Rabinovitz D, McKusick VA, Rimoin DL. An unusual variety of endocrine dwarfism: Subresponsiveness to growth hormone in a sexually mature dwarf. Lancet 1998; 2: 191–193.

    Google Scholar 

  19. Daughaday WH, Laron Z, Pertzelan A, Heins JN. Defective sulfation factor generation: a possible etiological link in dwarfism. Trans Assoc Am Physicians 1969; 82: 129–138.

    PubMed  CAS  Google Scholar 

  20. Bala RM, Beck JC. Fractionation studies on plasma of normals and patients with Laron dwarfism and hypopituitary gigantism. Can J Physiol Pharmacol 1973; 91: 845–852.

    Article  Google Scholar 

  21. Eshet R, Laron Z, Brown M, Arnon R. Immunoreactive properties of the plasma hGH from patients with the syndrome of familial dwarfism and high plasma IR-hGH. J Clin Endocrinol Metab 1973; 37: 819–821.

    Article  PubMed  CAS  Google Scholar 

  22. Tsushima T, Shiu. RPC, Kelly PA, Friesen HG. Radioreceptor assay for human growth hormone and lactogens: structure-function studies and clinical applications. In: Raiti S (ed) Advances in Human Growth Hormone Research. USPHS, Bethesda, MD. USPHS-DHEW Publication 74–612, 1973, pp. 372–387.

    Google Scholar 

  23. Jacobs LS, Sneid DS, Garland JT, Laron Z, Daughaday WH. Receptor-active growth hormone in Laron dwarfism. J Clin Endocrinol Metab 1976; 42: 403–406.

    Article  PubMed  CAS  Google Scholar 

  24. Golde DW, Bersch N, Kaplan SA, Rimoin DL, Li CH. Peripheral unresponsiveness to human growth hormone in Laron dwarfism. N Engl J Med 1980; 303: 1156–1159.

    Article  PubMed  CAS  Google Scholar 

  25. Eshet R, Laron Z, Pertzelan A, Arnon R, Dintzman M. Defect of human growth hormone receptors in the liver of two patients with Laron-type dwarfism. Isr J Med Sci 1984; 20: 8–11.

    PubMed  CAS  Google Scholar 

  26. Daughaday WH, Trivedi B. Absence of serum growth hormone binding protein in patients with growth hormone receptor deficiency (Laron dwarfism). Proc Natl Acad Sci USA 1987; 84: 4636–4640.

    Article  PubMed  CAS  Google Scholar 

  27. Baumann G, Shaw MA, Winter RJ. Absence of plasma growth hormone-binding protein in Larontype dwarfism. J Clin Endocrinol Metab 1987; 65: 814–816.

    Article  PubMed  CAS  Google Scholar 

  28. Godowski PJ, Leung DW, Meacham LR, et al. 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.

    Article  PubMed  CAS  Google Scholar 

  29. Pantel J, Machinis K, Sobrier ML, Duquesnoy P, Goossens M, Amselem S. Species-specific alternative splice mimicry at the growth hormone receptor locus revealed by the lineage of retroelements during primate evolution. A novel mechanism accounting for protein diversity between and within species. J Biol Chem 2000;275:18, 664–18, 669.

    Google Scholar 

  30. Rosenbloom AL, Guevara-Aguirre J. Lessons from the genetics of Laron syndrome. Trends Endocrinol Metab 1998; 9: 276–283.

    Article  PubMed  CAS  Google Scholar 

  31. Metherell LA, Munroe PB, Bjarnson R, et al. Proc Endocr Soc 82nd Ann Mtg 2000 absract # 1994, p. 482.

    Google Scholar 

  32. Attie KM, Carlsson LMS, Rundle AC, Sherman BM. Evidence for partial growth hormone insensitivity among patients with idiopathic short stature. J Pediatr 1995; 127: 244–250.

    Article  PubMed  CAS  Google Scholar 

  33. Sanchez JE, Perera E, Baumbach L, Cleveland WW. Growth hormone receptor mutations in children with idiopathic short stature. J Clin Endocrinol Metab 1998; 83: 4079–4083.

    Article  PubMed  CAS  Google Scholar 

  34. Kou K, Lajara R, Rotwein P. Amino acid substitutions in the intracellular part of the growth hormone receptor in a patient with the Laron syndrome. J Clin Endocrinol Metab 1993; 76: 54–59.

    Article  PubMed  CAS  Google Scholar 

  35. Goddard AD, Covello R, Luoh S-M, et al. Mutations of the growth hormone receptor in children with idiopathic short stature. N Eng J Med 1995; 333: 1093–1098.

    Article  CAS  Google Scholar 

  36. Ayling RM, Ross R, Towner P, et al. A dominant-negative mutation of the growth hormone receptor causes familial short stature. Nature Genet 1997; 16: 13–14.

    Article  PubMed  CAS  Google Scholar 

  37. Iida K, Takahashi Y, Kaji H, et al. Growth hormone (GH) insensitivity syndrome with high serum GH binding protein levels caused by a heterozygous splice site mutation of the GH receptor gene producing a lack of intracellular domain. J Clin Endocrinol Metab 1998; 83: 531–537.

    Article  PubMed  CAS  Google Scholar 

  38. Iida K, Takahashi Y, Kaji H, et al. Functional characterization of truncated growth hormone (GH) receptor (1–277) causing partial GH insensitivity syndrome with high GH-binding protein. J Clin Endocrinol Metab 1999; 84: 1011–1016.

    Article  PubMed  CAS  Google Scholar 

  39. Dastot F, Sobrier ML, Duquesnoy P, Duriez B, Goosens M, Amselem S. Alternative spliced forms in the cytoplasmic domain of the human growth hormone (GH) receptor regulate its ability to generate a soluble GH binding protein. Proc Natl Acad Sci USA 1996;93:10, 723–10, 728.

    Google Scholar 

  40. Ross RJM, Esposito N, Shen XY, et al. A short isoform of the human growth hormone receptor functions as a dominant negative inhibitor of the full-length receptor and generates large amounts of binding protein. Mol Endocrinol 1997; 11: 265–273.

    Article  PubMed  CAS  Google Scholar 

  41. Amit T, Bergman T, Dastot F, Youdim MBH, Amselem S, Hochberg Z. A membrane-fixed, truncated isoform of the human growth hormone receptor. J Clin Endocrinol Metab 1997; 82: 3813–3817.

    Article  PubMed  CAS  Google Scholar 

  42. Iida K, Takahashi Y, Kaji H, et al. The C422F mutation of the growth hormone receptor gene is not responsible for short stature. J Clin Endocrinol Metab 1999; 84: 4214–4219.

    Article  PubMed  CAS  Google Scholar 

  43. Chujo S, Kaji H, Takahashi Y, Okimura Y, Abe H, Chihara K. No correlation of growth hormone receptor gene mutation P561T with body height. Eur J Endocrinol 1996; 134: 560–562.

    Article  PubMed  CAS  Google Scholar 

  44. Rosenbloom AL, Guevara-Aguirre J, Berg MA, Francke U. Stature in Ecuadorians heterozygous for the growth hormone receptor (GHR) gene E 180 splice mutation does not differ from that of homozygous normal relatives. J Clin Endocrinol Metab 1998; 83: 2373–2375.

    CAS  Google Scholar 

  45. Berg MA, Peoples R., Perez-Jurado L, et al. Receptor mutations and haplotypes in growth hormone receptor deficiency: a global survey and identification of the Ecuadorian E1 80 splice mutation in an oriental Jewish patient. Acta Paediatr 1994; 399 (Suppl): 112–114.

    Article  CAS  Google Scholar 

  46. Laron Z, Klinger B, Eshet R, Kaneti H, Karasik A, Silbergeld A. Laron syndrome due to a post-receptor defect: response to IGF-I treatment. Isr J Med Sci 1993; 29: 757–763.

    PubMed  CAS  Google Scholar 

  47. Freeth JS, Ayling RM, Whatmore AJ, et al. Human skin fibroblasts as a model of growth hormone (GH) action in GH receptor-positive Laron’s syndrome. Endocrinology 1997; 138: 55–61.

    Article  PubMed  CAS  Google Scholar 

  48. Freeth JS, Silva CM, Whatmore AJ, Clayton PE. Activation of the signal transducers and activators of transcription signaling pathway by growth hormone (GH) in skin fibroblasts from normal and GH binding protein-positive Laron syndrome children. Endocrinology 1998; 139: 20–28.

    Article  PubMed  CAS  Google Scholar 

  49. Rosenbloom AL, Francke U, Rosenfeld RG, Guevara-Aguirre J. Growth hormone receptor deficiency in Ecuador. J Clin Endocrinol Metab 1999; 84: 4436–4443.

    Article  PubMed  CAS  Google Scholar 

  50. Jorgensen JO, Müller J, Moller J, Wolthers T, Vahl N, Juul A, Skakkebaek NE, Christiansen JS. Adult growth hormone deficiency. Horm Res 1994; 42: 235–241.

    Article  PubMed  CAS  Google Scholar 

  51. Rosenbloom AL, Martinez V, Kranzler J, Bachrach LK, Rosenfeld RG, Guevara-Aguirre J. Natural history of growth hormone receptor deficiency. Acta Paediatr Suppl 1999; 428: 153–156.

    Article  Google Scholar 

  52. Rudling M, Norstedt G, Olivecrona H, Reihnér E, Gustafsson J-A, Angelin B. Importance of growth hormone for the induction of hepatic low density lipoprotein receptors. Proc Natl Acad Sci 1992; 89: 6983–6987.

    Article  PubMed  CAS  Google Scholar 

  53. Laron Z, Lilos P, Klinger B. Growth curves for Laron syndrome. Arch Dis Child 1993; 68: 768–770.

    Article  PubMed  CAS  Google Scholar 

  54. Rose SR, Municchi G, Barnes KM, et al. Spontaneous growth hormone secretion increases during puberty in normal girls and boys. J Clin Endocrinol Metab 1991; 73: 428–435.

    Article  PubMed  CAS  Google Scholar 

  55. Crosnier H, Gourmelen M, Prëvot C, Rappaport R. Effects of nutrient intake on growth, insulin-like growth factors, and their binding proteins in a Laron-type dwarf. J Clin Endocrinol Metab 1993; 76: 248–250.

    Article  PubMed  CAS  Google Scholar 

  56. Schaefer GB, Rosenbloom AL, Guevara-Aguirre J, et al. Facial morphometry of Ecuadorian patients with growth hormone receptor deficiency/Laron syndrome. J Med Genet 1994; 31: 635–639.

    Article  PubMed  CAS  Google Scholar 

  57. Rosenbloom AL, Guevara-Aguirre J, Rosenfeld RG, Fielder PJ. The little women of Loja. Growth hormone receptor-deficiency in an inbred population of southern Ecuador. N Engl J Med 1990; 323: 1367–1374.

    Article  PubMed  CAS  Google Scholar 

  58. Rosenbloom AL, Selman-Almonte A, Brown MR, Fisher DA, Baumbach L, Parks JS. Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of PROP-1 gene. J Clin Endocrinol Metab 1999; 84: 50–57.

    Article  PubMed  CAS  Google Scholar 

  59. Rosenbloom AL, Guevara-Aguirre J, Fielder PJ, et al. Growth hormone receptor deficiency/Laron syndrome in Ecuador: Clinical and biochemical characteristics. Pediatr Adolesc Endocrinol 1993; 24: 34–52.

    Google Scholar 

  60. Bachrach LB, Marcus R, Ott SM, et al. Bone mineral, histomorphometry, and body composition in adults with growth hormone receptor deficiency. J Bone Mineral Res 1998; 3: 415–421.

    Article  Google Scholar 

  61. Bandeira F, Camargo K, Caldas G, Rosenbloom AL, Stabler B, Underwood LE. Primary growth hormone insensitivity: case report. Arq Bras Endocrinol Metab 1997; 41: 198–200.

    Google Scholar 

  62. Frankel JJ, Laron Z. Psychological aspects of pituitary insufficiency in children and adolescents with special reference to growth hormone. Isr J Med Sci 1968; 4: 953–961.

    PubMed  CAS  Google Scholar 

  63. Galatzer A, Aran O, Nagelberg N, Rubitzek J, Laron Z Cognitive and psychosocial functioning of young adults with Laron syndrome. Pediatr Adolesc Endocrinol 1993; 24: 53–60.

    Google Scholar 

  64. Maheshwari HG, Silverman BI, 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.

    Article  PubMed  CAS  Google Scholar 

  65. Woods KA, Dastot F, Preece MA, et al. Extensive personal experience. Phenotype: genotype relationships in growth hormone insensitivity syndrome. J Clin Endocrinol Metab 1997; 82, 3529–3535.

    Article  PubMed  CAS  Google Scholar 

  66. Guevara-Aguirre J, Rosenbloom AL. Psychosocial adaptation of Ecuadorian patients with growth hormone receptor deficiency/Laron syndrome. Pediatr Adolesc Endocrinol 1993; 24: 61–64.

    Google Scholar 

  67. Kranzler JH, Rosenbloom AL, Martinez V, Guevara-Aguirre J. Normal intelligence with severe IGF-I deficiency due to growth hormone receptor deficiency: a controlled study in genetically homogeneous population. J Clin Endocrinol Metab 1998; 83: 1953–1958.

    Article  PubMed  CAS  Google Scholar 

  68. Zhou Y, Xu BC, Maheshwari HG, et al. A mammalian model for the Laron syndrome produced by targeted disruption of the mouse growth hormone receptor/binding protein gene (the Laron mouse). Proc Natl Acad Sci USA 1997;94:13, 215–13, 220.

    Google Scholar 

  69. Beck KD, Powell-Braxton L, Widmer H-R, Valverde J, and Hofti, F. IGF-I gene disruption results in reduced brain size, CNS hypomyelination, and loss of hippocampal granule and striatal parvalbumin-containing neurons. Neuron 1995; 14: 717–730.

    Article  PubMed  CAS  Google Scholar 

  70. Gargosky SE, Wilson KF, Fielder PJ, et al. The composition and distribution of insulin-like growth factors (IGFs) and IGF-binding proteins (IGFBPs) in the serum of growth hormone receptor-deficient patients: effects of IGF-I therapy on IGFBP-3. J Clin Endocrinol Metab 1993; 77: 1683–1689.

    Article  PubMed  CAS  Google Scholar 

  71. Wilson KF, Fielder PJ, Guevara-Aguirre J, et al. Long-term effects of insulin-like growth factor (IGF)-I treatment on serum IGFs and IGF binding proteins in adolescent patients with growth hormone receptor deficiency. Clin Endocrinol 1995: 42, 399–407.

    Article  CAS  Google Scholar 

  72. Guevara-Aguirre J, Vasconez O, 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: 1393–1398.

    Article  PubMed  CAS  Google Scholar 

  73. Guevara-Aguirre J, Rosenbloom AL, Vasconez O, Martinez V, Gargosky SE, Rosenfeld RG. Two year treatment of growth hormone receptor deficiency (GHRD) 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: 629–633.

    Article  PubMed  CAS  Google Scholar 

  74. Ranke MB, Savage MO, Chatelain PG, et al. Insulin-like growth factor I improves height in growth hormone insensitivity: two years’ results. Horm Res 1995; 44: 253–264.

    Article  PubMed  CAS  Google Scholar 

  75. Rosenbloom AL, Guevara-Aguirre J, Fielder PJ, Gargosky S, Cohen P, Rosenfeld RG. Insulin-like growth factor binding proteins-2 and -3 in Ecuadorian patients with growth hormone receptor deficiency and their parents. Pediatr Adolesc Endocrinol 1993; 24: 185–191.

    Google Scholar 

  76. Woods KA, Savage MO. The Laron syndrome: typical and atypical forms. Bailliere’s Clin Endocrinol Metab 1996; 10: 371–387.

    Article  PubMed  CAS  Google Scholar 

  77. Rosenbloom AL. IGF-I treatment of growth hormone insensitivity. In: Rosenfeld RG, Roberts CT, eds. The IGF System: Molecular Biology, Physiology, and Clinical Applications. Totowa NJ; Humana Press, 1999, pp. 739–769.

    Google Scholar 

  78. Laron Z, Erster B, Klinger B, Anin S. Effect of acute administration of insulin-like growth factor I in patients with Laron-type dwarfism. Lancet 1988; 2: 1170–1172.

    Article  PubMed  CAS  Google Scholar 

  79. Laron Z, Klinger B, Silbergeld A, Lewin R, Erster B, Gil-Ad I. Intravenous administration of recombinant IGF-I lowers serum GHRH and TSH. Acta Endocrinologica 1990; 123: 378–382.

    PubMed  CAS  Google Scholar 

  80. Klinger B, Garty M, Laron Z. Elimination characteristics of intravenously administered rIGF-I in Laron-type dwarfs. Dev Pharmacol Ther 1990; 15: 196–199.

    PubMed  CAS  Google Scholar 

  81. Walker JL, Ginalska-Malinowska M, Romer TE, Pucilowska JB, Underwood LE. Effects of the infusion of insulin-like growth factor I in a child with growth hormone insensitivity syndrome (Laron syndrome). N Engl J Med 1991; 324: 1483–1488.

    Article  PubMed  CAS  Google Scholar 

  82. Laron Z, Klinger B, Jensen LT, Erster B. Biochemical and hormonal changes induced by one week of administration of rIGF-I to patients with Laron type dwarfism. Clin Endocrinol 1991; 35: 145–160.

    Article  CAS  Google Scholar 

  83. Laron Z, Klinger B, Blum WF, Silbergeld A, Ranke MB. IGF binding protein 3 in patients with Laron type dwarfism: effect of exogenous rIGF-I. Clin Endocrinol 1992; 36: 301–304.

    Article  CAS  Google Scholar 

  84. Lee PDK, Durham SK, Martinez V, Vasconez O, Powell DR, Guevara-Aguirre J. Kinetics of insulin-like growth factor (IGF) and IGF-binding protein responses to a single dose of growth hormone. J Clin Endocrinol Metab 1997; 82: 2266–2274.

    Article  PubMed  CAS  Google Scholar 

  85. Laron Z, Anin S, Klipper-Aurbach Y, Klinger B. Effects of insulin-like growth factor on linear growth, head circumference, and body fat in patients with Laron-type dwarfism. Lancet 1992; 339: 1258–1261.

    Article  PubMed  CAS  Google Scholar 

  86. Walker JL, Van Wyk JJ, Underwood LE. Stimulation of statural growth by recombinant insulin-like growth factor I in a child with growth hormone insensitivity syndrome (Laron type). J. Pediatr 1992; 121: 641–646.

    Article  PubMed  CAS  Google Scholar 

  87. Heinrichs C, Vis HL, Bergmann P, Wilton P, Bourguignon JP. Effects of 17 months treatment using recombinant insulin-like growth factor-I in two children with growth hormone insensitivity (Laron) syndrome. Clin Endocrinol 1993; 38: 647–651.

    Article  CAS  Google Scholar 

  88. Ranke MB, Savage MO, Chatelain PG, P.eece MA, Rosenfeld RG, Wilton P. 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: 128–134.

    Google Scholar 

  89. Martinez V, Vasconez O, Martinez A, et al. Body changes in adolescent patients with growth hormone receptor deficiency receiving recombinant human insulin-like growth factor I and luteini zing hormone-releasing hormone analog: preliminary results. Acta Paediatr 1994; 399 (Suppl): 133–136.

    Article  CAS  Google Scholar 

  90. Vasconez O, Martinez V, Martinez AL, et al. Heart rate increase in patients with growth hormone receptor deficiency treated with insulin-like growth factor I. Acta Paediatr 1994; 399 (Suppl): 137–139.

    Article  CAS  Google Scholar 

  91. Klinger B, Laron Z. Three year IGF-I treatment of children with Laron syndrome. J Ped Endocrinol Metab 1995; 8: 149–158.

    Article  CAS  Google Scholar 

  92. Klinger B, Anin S, Sibergeld A, Eshet R, Laron Z. Development of hyperandrogenism during treatment with insulin-like growth factor-I (IGF-I) in female patients with Laron syndrome. Clin. Endocrinol. 1998; 48: 81–87.

    Article  CAS  Google Scholar 

  93. Backeljauw PF, Underwood LE, The GHIS Collaborative Group. Prolonged treatment with recombinant insulin-like growth factor-I in children with growth hormone insensitivity syndrome–a clinical research center study. J Clin Endocrinol Metab 1996; 81: 3312–3317.

    Article  PubMed  CAS  Google Scholar 

  94. Backeljauw PF, Kissoondial A, Underwood LE, Simmons KE. Effects of 4 years treatment with recombinant human insulin-like growth factor-I (rh IGF-I) on craniofacial growth in children with growth hormone insensitivity syndrome (GHIS). Horm Res 1997;48(Suppl 2):40(Abstract 243).

    Google Scholar 

  95. Backeljauw PF, Underwood LE. The GHIS collaborative group. Prolonged treatment with recombinant insulin-like growth factor-I (rh IGF-I) in children with growth hormone insensitivity syndrome (GHIS): 4 year update. Horm Res 1997;48(Suppl 2):15(Abstract 58).

    Google Scholar 

  96. Walker JL, Crock PA, Behncken SN, et al. A novel mutation affecting the interdomain link region of the growth hormone receptor in a Vietnamese girl, and response to long-term treatment with recombinant human insulin-like growth factor-I and luteinizing hormone-releasing hormone analog. J Clin Endocrinol Metab 1998; 83: 2554–2561.

    Article  PubMed  CAS  Google Scholar 

  97. Leonard J, Samuels M, Cotterill AM, Savage MO. Effects of recombinant insulin-like growth factor I on craniofacial morphology in growth hormone insensitivity. Acta Paediatr 1994; 399 (Suppl): 140–141.

    Article  CAS  Google Scholar 

  98. Bjerknes R, Vesterhus P, Aarskog D. Increased neutrophil insulin-like growth factor-I (IGF-I) receptor expression and IGF-I-induced functional capacity in patients with untreated Laron syndrome. Eur J Endocrinol 1997; 136: 92–95.

    Article  PubMed  CAS  Google Scholar 

  99. Diamond F, Martinez V, Guevara-Aguirre J, et al. Immune function in patients with gorwth hormone receptor deficiency (GHRD). Proc Endocrinol Soc 78th Ann Mtg, 1996, vol 1, p. 276.

    Google Scholar 

  100. Le Roith D, Blakesley VA. The yin and the yang of the IGF system: immunological manifestations of GH resistance. Eur J Endocrinol 1997; 136: 33–34.

    Article  PubMed  Google Scholar 

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  1. Arlan L. Rosenbloom MD
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Editors and Affiliations

  1. Section of Pediatric Endocrinology, University of Chicago Medical Center, Chicago, IL, USA

    Sally Radovick MD

  2. Division of Endocrinology, Children’s Hospital of Buffalo, Buffalo, NY, USA

    Margaret H. MacGillivray MD

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Rosenbloom, A.L. (2003). Growth Hormone Insensitivity Syndrome. In: Radovick, S., MacGillivray, M.H. (eds) Pediatric Endocrinology. Contemporary Endocrinology. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-59259-336-1_2

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  • DOI: https://doi.org/10.1007/978-1-59259-336-1_2

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