IGF-I deficiency due to GH receptor deficiency

Hormone and Metabolic Research

Volumn 31, Issue 2-3, 1999, Pages 161-171

  Rosenbloom, A L ^a  

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

Author keywords

GH binding protein; GH receptor deficiency; IGF I deficiency; Laron syndrome

Indexed keywords

CHOLESTEROL; CLONIDINE; GROWTH HORMONE; GROWTH HORMONE BINDING PROTEIN; GROWTH HORMONE RECEPTOR; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; INSULIN; LIPOPROTEIN A; LOW DENSITY LIPOPROTEIN CHOLESTEROL; RECOMBINANT SOMATOMEDIN C; SOMATOMEDIN BINDING PROTEIN; SOMATOMEDIN C; TRIACYLGLYCEROL; VERY LOW DENSITY LIPOPROTEIN CHOLESTEROL;

ARTICLE; CARDIOVASCULAR RISK; CLINICAL FEATURE; CLINICAL TRIAL; DEVELOPMENT; GENE MUTATION; GROWTH; GROWTH HORMONE DEFICIENCY; HORMONE RESISTANCE; HUMAN; HYPOGLYCEMIA; INTRAVENOUS DRUG ADMINISTRATION; LARON SYNDROME; METABOLISM; MORTALITY; NONHUMAN; PRIORITY JOURNAL; RADIOIMMUNOASSAY; SCORING SYSTEM; SIGNAL TRANSDUCTION; SUBCUTANEOUS DRUG ADMINISTRATION;

EID: 0032899249     PISSN: 00185043     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-978715     Document Type: Article

References (72)

1. 1. Laron Z, Blum W, Chatelain P, Ranke M, Rosenfeld R, Savage M, Underwood L. Classification of growth hormone insensitivity syndrome. J Pediatr 1993; 122: 241
2. 2. Rosenfeld RG, Rosenbloom AL, Guevara-Aguirre J. Growth hormone (GH) insensitivity due to primary GH receptor deficiency. Endocr Rev 1994; 15: 369-90
3. 3. Rosenbloom AL, Guevara-Aguirre J, Rosenfeld RG, Pollock BH. Growth in growth hormone insensitivity. Trends Endocrinol Metab 1994; 5: 296-303
4. 4. Rosenbloom AL, Rosenfeld RG, Guevara-Aguirre J. Growth hormone insensitivity. Ped Clin N Amer 1997; 44: 423-42
5. 5. Savage MO, Woods KA. The investigation of growth hormone insensitivity. Clin Endocrinol 1996; 45: 257-60
6. 6. Rosenbloom AL, Guevara-Aguirre J, Vaccarello M, Rosenfeld RG, Fielder PF, Diamond FD. Growth hormone receptor deficiency (Laron syndrom). In: Spencer EM (ed). Modern Concepts of Insulin-Like Growth Factors. Amsterdam, Elsevier, 1991: 49-70
7. 7. 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: 757-63
8. 8. 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: 20-8
9. 9. Laron Z, Pertzelan A, Mannheimer S. Genetic pituitary dwarfism with high serum concentrations of growth hormone - a new inborn error of metabolism? Isr J Med Sci 1966; 2: 152-5
10. 10. Laron Z, Pertzelan A, Karp M. Pituitary dwarfism with high serum levels of growth hormone. Isr J Med Sci 1968; 4: 883-94
11. 11. Rosenbloom AL. The chronicle of growth hormone receptor deficiency (Laron syndrome). Acta Paediatr (suppl) 1992; 380: 50-3
12. 12. Ymer SI, Herrington AC. Evidence for the specific binding of growth hormone to a receptor-like protein in rabbit serum. Mol Cell Endocrinol 1985; 41: 153-61
13. 13. Baumann G, Shaw MA, Winter RJ. Absence of plasma growth hormone-binding protein in Laron-type dwarfism. J Clin Endocrinol Metab 1987; 65: 814-6
14. 14. 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: 4636-40
15. 15. Leung DW, Spencer SA, Cachianes C, 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: 537-43
16. 16. 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 patiens with Laron-type dwarfism. Proc Natl Acad Sci USA 1989; 86: 8083-7
17. 17. Stallings-Mann ML, Ludwiczak RL, Klinger KW, Rottman F. Alternative splicing of exon 3 of the human growth hormone receptor is the result of an unusual genetic polymorphism. Proc Natl Acad Sci 1996; 93: 12394-9
18. 18. Meacham LR, Brown MR, Murphy TL, Keret R, Silbergeld A, Laron Z, Parks JS. Characterization of a noncontiguous gene deletion of the growth hormone receptor in Laron's syndrome. J Clin Endocrinol Metab 1993; 77: 1379-83
19. 19. Amselem S, Duquesnoy P, Attree O, Novelli G, Bousnina S, Postel-Vinay M-C, Goosens M. Laron dwarfism and mutations of the growth hormone-receptor gene. N Eng J Med 1989; 321: 989-95
20. 20. Amselem S, Sobrier M-L, Duquesnoy P, Rappaport R, Postel-Vinay M-C, Gourmelen M, Dallipiccola B, Goosens M. Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism. J Clin Invest 1991; 7: 1098-1102
21. 21. Berg MA, Guevara-Aguirre J, Rosenbloom AL, Rosenfeld RG, Francke U. Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorian patients with Laron syndrome. Human Mutation 1992; 1: 24-34
22. 22. Berg MA, Argente J, Chernausek S, Gracia R, Guevara-Aguirre J, Hopp M, Perez-Jurado L, Rosenbloom AL, Toledo S, Francke U. Diverse growth hormone receptor gene mutations in Laron syndrome. Am J Hum Gen 1993; 42: 998-1005
23. 23. Amselem S, Duquesnoy P, Duriez B, Dastot F, Sobrier M-L, Valleix S. Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome. Hum Mol Genet 1993; 4: 355-9
24. 24. Berg MA, Peoples R, Perez-Jurado L, Guevara-Aguirre J, Rosenbloom AL, Laron Z, Milner RDG, Francke U. Receptor mutations and haplotypes in growth hormone receptor deficiency: A global survey and identification of the Ecuadorian E-180 splice mutation in an oriental Jewish patient. Acta Paediatr Suppl 1994; 399: 112-4
25. 25. Rosenbloom AL, Berg MA, Kasatkina EP, Volkova TN, Skorobogatova VF, Sokolovskaya VN, Francke U. Severe growth hormone insensitivity (Laron syndrome) due to nonsense mutation of the GH receptor in brothers from Russia. J Pediatr Endocrinol Metab 1995; 8: 159-165
26. 26. Woods KA, Fraser NC, Postel-Vinay M-C, Savage MO, Clark AJL. 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: 1686-90
27. 27. Sobrier M-L, Dastot F, Duquesnoy P, Kandemir N, Yordam N, Goodens M, Amselem S. Nine novel growth hormone receptor gene mutations in patients with Laron syndrome. J Clin Endocrinol Metab 1997; 82: 435-7
28. 28. Otsuka T, Iwatani N, Kodama M, Sakakida M, Shichiri M, Jinno Y, Niikawa N, Miike T. The growth hormone receptor gene mutation of a Japanese patient with Laron syndrome. Jpn J Hum Genet 1997; 42: 323-9
29. 29. Baumbach L, Schiavi A, Bartlett R, Perera E, Day J, Brown MR, Stein S, Eidson M, Parks JS, Cleveland W. Clinical, biochemical, and molecular investigations of a genetic isolate of growth hormone insensitivity (Laron's syndrome). J Clin Endocrinol Metab 1997; 82: 444-51
30. 30. Kaji H, Nose O, Tajiri H, Tajiri H, Takahashi Y, Iida K, Takahashi T, Okimura Y, Abe H, Chihara K. Novel compound heterozygous mutations of growth hormone (GH) receptor gene in a patient with GH insensitivity syndrome. J Clin Endocrinol Metab 1997; 82: 3705-9
31. 31. Ayling RM, Ross R, Towner P, Von Laue S, Finidori J, Moutoussamy S, Cuchanan CR, Clayton PE, Norman MR. A dominant-negative mutation of the growth hormone receptor causes familial short stature. Nature Genet 1997; 16: 13-4
32. 32. Iida K, Takahashi Y, Kaji H, Nose O, Okimura Y, Abe H, Chihara K. 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: 531-7
33. 33. Duquesnoy P, Sobrier M-L, Duriez B, Dastot F, Buchanan CR, Savage MO, Preece MA, Craescu T, Blouquit Y, Goosens M, Amselem S. 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; 13:1386-95
34. 34. Silbergeld A, Dastot F, Klinger B, Kanety H, Eshet R, Amselem S, Laron Z. Intronic mutation in the growth hormone (GH) receptor gene from a girl with Laron syndrome and extremely high serum GH binding protein: extended phenotypic study in a very large pedigree. J Ped Endocrinol Metab 1997; 10: 265-74
35. 35. Freeth JS, Ayling RM, Whatmore AJ, Towner P, Price DA, Norman MR, Clayton PE. Human skin fibroblasts as a model of growth hormone (GH) action in GH receptor-positive Laron's syndrome. Endocrinology 1997; 138: 55-61
36. 36. Rivarola MA, Phillips JA III, Migeon CJ, Heinrich JJ, Hjelle BJ. Phenotypic heterogeneity in familial isolated growth hormone deficiency type 1-A. J Clin Endocrinol Metab 1984; 59: 34-40
37. 37. Rosen T, Bengtsson B-A. Premature cardiovascular mortality in hypopituitarism - a study of 33 consecutive patients. Lancet 1990; 340:285-8
38. 38. Rosenbloom AL, Martinez V, Kranzler J, Bachrach LK, Rosenfeld RG, Guevara-Aguirre J. Natural history of growth hormone receptor deficiency. Acta Paediatr 1999: in press
39. 39. Rudling M, Norstedt G, Olivecrona H, Reihner 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: 6983-7
40. 40. 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: 1363-7
41. 41. Rosenbloom AL, Savage MO, Blum WF, Guevara-Aguirre J, Rosenfeld RG. Clinical and biochemical phenotype of GH receptor deficiency/Laron syndrome. Acta Paediatr (suppl) 1992; 380: 58-61
42. 42. Laron Z, Lilos P, Klinger B. Growth curves for Laron syndrome. Arch Dis Child 1993; 68: 768-70
43. 43. Lemli L, Smith DW. The XO syndrome - a study of the differentiated phenotype in 25 patients. J Pediatr 1963; 63: 577-88
44. 44. Rcsenbloom AL, Guevara-Aguirre J, Fielder PJ, Gargosky S, Rosenfeld RG, Diamond FB Jr, Vaccarello MA. Growth hormone receptor deficiency/Laron syndrome in Ecuador: Clinical and biochemical characteristics. In: Laron Z, Parks JS (eds). Lessons from Laron Syndrome (LS) 1966-1992. Pediatr Adolesc Endocrinol Vol. 24. Basel, Karger, 1993: 34-52
45. 45. Woods KA, Dastot F, Preece MA, Clark AJL, Postel-Vinay M-C, Chatelain PG, Ranke M, Rosenfeld R, Amselem S, Savage MO. Extensive personal experience. Phenotype:genotype relationships in growth hormone insensitivity syndrome. J Clin Endocrinol Metab 1997; 82: 3529-35
46. 46. Schaefer GB, Rosenbloom AL, Guevara-Aguirre J, Campbell EA, Ullrich F, Patil K, Frias JL. Facial morphometry of Ecuadorian patients with growth hormone receptor deficiency/Laron syndrome. J Med Genet 1994; 31: 635-9
47. 47. 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: 1367-74
48. 48. Laron Z. Laron-type dwarfism (LTD): past, present, and future. Growth and Growth Factors 1991; 6: 99-102
49. 49. Rosenbloom AL, Selman-Almonte A, Brown MR, Fisher DA, Baumbach L, Parks JS. Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of PROP1 gene. J Clin Endocrinol Metab 1999; 84: 50-1
50. 50. Rosenbloom AL, Bandeira F. Primary growth hormone insensitivity syndrome: a review. Arq Bras Endocrinol Metab 1997; 41: 155-62
51. 51. Main KM, Price DA, Savage MO, Shakkebae NE. Decreased sweating in seven patients with Laron syndrome. J Clin Endocrinol Metab 1993; 77: 821-3
52. 52. Dor J, Ben-Shlomo I, Lunenfeld B, Pariente C, Levran D, Karasik A, Seppala M, Massiach S. Insulin-like growth factor-I (IGF-I) may not be essential for ovarian follicular development: evidence from IGF-1 deficiency. J Clin Endocrinol Metab 1992; 74: 539-42
53. 53. 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: 953-61
54. 54. Galatzer A, Aran O, Nagelberg J, Rubitzek J, Laron Z. Cognitive and psychosocial functioning of young adults with Laron syndrome. In: Laron Z, Parks JS (eds). Lessons from Laron syndrome (IS) 1966-92. Pediatr Adolesc Endocrinol Vol. 24. Basel, Karger, 1993: 53-60
55. 55. Pierson M, Malaprade D, Fortier G, Belleville F, Lasbennes A, Wullbercq L. Le nanisme familial de type Laron, deficit genetique primaire en somatomedine. Arch Franc Ped 1978; 35: 151-64
56. 56. Guevara-Aguirre J, Rosenbloom AL. Psychosocial adaptation of Ecuadorian patients with growth hormone receptor deficiency/ Laron syndrome. In: Laron Z, Parks JS (eds). Lessons from Laron Syndrome (LS) 1966-1992. Pediatr Adolesc Endocrinol Vol. 24. Basel, Karger, 1993: 61-4
57. 57. 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 a genetically homogeneous population. J Clin Endocrinol Metab 1998; 83: 1953-8
58. 58. Guevara-Aguirre J, Rosenbloom AL, Fielder PJ, Diamond FB Jr, Rosenfeld RG. Growth hormone receptor deficiency in Ecuador: clinical and biochemical phenotype in two populations. J Clin Endocrinol Metab 1993; 76: 417-23
59. 59. 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. In: Laron Z, Parks JS (eds). Lessons from Laron Syndrome (LS) 1966-1992. Pediatr Adolesc Endocrinol Vol. 24. Basel, Karger, 1993: 185-91
60. 60. Vaccarello MA, Diamond FB Jr, Guevara-Aguirre J, Rosenbloom AL, Fielder PJ, Gargosky S, Cohen P, Wilson K, Rosenfeld RG. 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: 273-80
61. 61. Guevara-Aguirre J, Vasconez O, Martinez V, Martinez AL, Rosenbloom AL, Diamond FB Jr, Gargosky SE, Nonoshita L, Rosenfeld RG. A randomized double-blind, placebo-controlled trial of safety and efficacy of recombinant insulin-like growth factor-I in children with growth hormone receptor deficiency. J Clin Endocrinol Metab 1995; 80: 1393-8
62. 62. 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: 629-33
63. 63. 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
64. 64. 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 Suppl 1994; 399: 140-1
65. 65. Backeljauw PE, Kissoondial A, Underwood LE, Simmons KE. Effect of 4 years treatment with recombinant human insulin like growth factor-I (rh1GF-I) on craniofacial growth in children with growth hormone insensitivity syndrome (GHIS). Horm Res (suppl 2) 1997; 48: 40
66. 66. Laron Z, Klinger B. IGF-I treatment of adult patients with Laron syndrome: preliminary results. Clin Endocrinol 1994; 44: 631-8
67. 67. 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: 54-9
68. 68. Chujo S, Kaji H, Takahashi Y, Okimur Y, Abe H, Chihara K. No correlation of growth hormone receptor gene mutation P561T with body height. Eur J Endocrinol 1996; 134: 560-2
69. 69. Rosenbloom AL, Guevara-Aguirre J, Berg MA, Francke U. Stature in Ecuadorians heterozygous for the growth hormone receptor (GHR) gene E180 splice mutation does not differ from that of homozygous normal relatives. J Clin Endocrinol Metab 1998: 83: 2373-5
70. 70. Carlsson LMS, Attie KM, Compton PG, Vingcol RV, Merimee TJ. The National Cooperative Growth Study: Reduced concentration of serum growth hormone-binding protein in children with idiopathic short stature. J Clin Endocrinol Metab 1994; 78: 1325-30
71. 71. Goddard AD, Covello R, Luoh S-M, Clackson T, Attie KM, Gesundheit N, Rundle AC, Wells JA, Carlsson LMS. The Growth Hormone Insensitivity Study Group: Mutations of the growth hormone receptor in children with idiopathic short stature. N Engl J Med 1995; 333: 1093-8
72. 72. Ranke MB, Savage MO. IGF-I generation test in idiopathic short stature. Acta Paediatr Suppl 1999: in press