The role of somatropin therapy in children with Noonan syndrome

Treatments in Endocrinology

Volumn 2, Issue 3, 2003, Pages 165-172

  Kelnar, Chris J H ^a,b  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

HUMAN GROWTH HORMONE; SOMATOMEDIN; TRANSCRIPTION FACTOR PIT 1;

BIOAVAILABILITY; BODY HEIGHT; CHROMOSOME 12; CLINICAL FEATURE; CORRELATION ANALYSIS; DISEASE ASSOCIATION; GENETIC CODE; GENOTYPE; HEART MUSCLE; HUMAN; HYPERTROPHY; HYPOGONADISM; NOONAN SYNDROME; PHENOTYPE; PRIORITY JOURNAL; QUALITY OF LIFE; REVIEW; SHORT STATURE;

CHILD; HUMAN GROWTH HORMONE; HUMANS; NOONAN SYNDROME;

EID: 0038268722     PISSN: 11756349     EISSN: None     Source Type: Journal    
DOI: 10.2165/00024677-200302030-00003     Document Type: Review

References (83)

1. Winter RM, Baraitser M. London dysmorphology database. Oxford: Oxford University Press, 1995
2. Noonan J, Ehmke DA. Associated non-cardiac malformations in children with congenital heart disease. J Pediatr 1963; 63: 468-70
3. Noonan JA. Hypertelorism with turner phenotype: a new syndrome with associated congenital heart disease. Am J Dis Child 1968; 116: 373-80
4. Mendez HMM, Opitz JM. Noonan syndrome: a review. Am J Med Genet 1985; 21: 493-506
5. Allanson JE, Hall JG, Hughes HE, et al. Noonan syndrome: the changing phenotype. Am J Med Genet 1985; 21: 507-14
6. Allanson JE. Noonan syndrome. J Med Genet 1987; 24: 9-13
7. Sharland M, Burch M, McKenna WJ, et al. A clinical study of Noonan syndrome. Arch Dis Child 1992; 67: 178-83
8. Sharland M, Taylor R, Patton MA, et al. Absence of linkage of Noonan syndrome to the neurofibromatosis type 1 locus. J Med Genet 1992; 29: 188-90
9. Caralis DG, Char F, Graber JD, et al. Delineation of multiple cardiac anomalies associated with Noonan syndrome in an adult and review of the literature. Johns Hopkins Med J 1974; 134: 346-53
10. Ranke MB. Turner and Noonan syndromes. In: Kelnar CJH, Savage MO, Stirling HF, et al., editors. Growth disorders: pathophysiology and treatment. London: Chapman and Hall, 1998: 623-39
11. van der Burgt I, Berends E, Lommen E, et al. Clinical and molecular studies in a large Dutch family with Noonan syndrome. Am J Med Genet 1994; 53: 187-91
12. Jamieson CR, van der Burgt I, Brady AF, et al. Mapping a gene for Noonan syndrome to the long arm of chromosome 12. Nat Genet 1994; 8: 357-60
13. Tartaglia M, Mehler EL, Goldberg R, et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 2001; 29: 465-8
14. Kosaki K, Suzuki T, Muroya K, et al. PTPN11 (Protein-tyrosine phosphatase, nonreceptor-Type 11) mutations in seven Japanese patients with Noonan syndrome. J Clin Endocrinol Metab 2002; 87: 3529-33
15. Feng GS. Shp-2 tyrosine phosphatase: signaling one cell or many. Exp Cell Res 1999; 253: 47-54
16. Stein-Gerlach M, Wallasch C, Ullrich A. SHP-2, SH2-containing protein tyrosine phosphatase-2. Int J Biochem Cell Biol 1998; 30: 559-66
17. Tamir I, Dal Porto JM, Cambier JC. Cytoplasmic protein tyrosine phosphatease SHP-01 and SHP-2: regulators of B cell signal transduction. Curr Opin Immunol 2000; 12: 307-15
18. Saxton TM, Henkemeyer M, Gasca S, et al. Abnormal mesoderm patterning in mouse embryos mutant for the SH2 tyrosine phosphatase Shp-2. EMBO J 1997; 16: 2352-64
19. Shi ZQ, Lu W, Feng GS. The Shp-2 tyrosine phosphatase has opposite effects in mediating the activation of extracellular signal-regulated and c-Jun NH2-terminal mitogen-activated protein kinases. J Biol Chem 1998; 273: 4904-8
20. You M, Yu DH, Feng GS. Shp-2 tyrosine phosphatase functions as a negative regulator of the interferon-stimulated JAK/STAT pathway. Mol Cell Biol 1999; 19: 2416-24
21. Maroun CR, Naujokas MA, Holgado-Madruga M, et al. The tyrosine phosphatase SHP-2 is required for sustained activation of extracellular signal-regulated kinase and epithelial morphogenesis downstream from the mot receptor tyrosine kinase. Mol Cell Biol 2000; 20: 2416-24
22. You M, Flick LM, Yu D, et al. Modulation of the nuclear factor kB pathway by Shp-2 tyrosine phosphatase in mediating the induction of interleukin (IL)-6 by IL-1 tumor necrosis factor. J Exp Med 2001; 193: 101-10
23. Chen B, Bronson RT, Klaman LD, et al. Mice mutant for Egfr and shp2 have defective cardiac semilunar valvulogenesis. Nat Genet 2000; 24: 296-9
24. Duncan WJ, Fowler RS, Farkas LG, et al. A comprehensive scoring system for evaluating Noonan syndrome. Am J Med Genet 1981; 10: 37-50
25. Witt DR, Keena BA, Hall JG, et al. Growth curves for height in Noonan syndrome. Clin Genet 1986; 30: 150-3
26. Ranke M, Heidemann P, Knupfer C, et al. Noonan syndrome: growth and clinical manifestations in 144 cases. Eur J Pediatr 1988; 148: 220-7
27. Kelnar CJH. Growth hormone therapy for syndromic disorders. Clin Endocrinol. In press
28. Rosenfeld RG. Broadening the growth hormone insensitivity syndrome. N Engl J Med 1995; 333: 1145-6
29. Ranke MB, Haber P. Growth hormone stimulation tests. In: Ranke M, editor. Diagnostics of endocrine function in children and adolescents. 2nd ed. Heidelberg: Barth Verlag, 1996: 134-48
30. Hindmarsh PC. Endocrine assessment of growth. In: Kelnar CJH, Savage MO, Stirling HF, et al., editors. Growth disorders: pathophysiology and treatment. London: Chapman and Hall, 1998: 237-50
31. Berbardini S, Spadoni GL, Cianfrani S. Growth hormone secretion in Noonan's syndrome. J Pediatr Endocrinol Metab; 1991, 221
32. Noordam C, van der Burgt I, Sweep CG, et al. Growth hormone (GH) secretion in children with Noonan syndrome: frequently abnormal without consequences for growth or response to GH treatment. Clin Endocrinol 2001; 54: 53-9
33. Elders MJ, Char F. Possible etiologic mechanisms of the short stature in the Noonan syndrome. The National Foundation of Birth Defects. Birth 1976; 12: 127-33
34. Spandoni GL, Bernardini S, Cianfarani S. Spontaneous growth hormone secretion in Noonan syndrome. Acta Paediatr Scand 1990; 367 Suppl.: 157
35. Ahmed ML, Foot AB, Edge JA, et al. Noonan syndrome: abnormalities of the growth hormone/IGF-I axis and the response to treatment with human biosynthetic growth hormone. Acta Paediatr Scand 1991; 80: 446-50
36. Tanaka K, Sato A, Naito T, et al. Noonan syndrome presenting with growth hormone neurosecretory dysfunction. Intern Med 1992; 31: 908-11
37. Romano AA, Blethen SL, Dana K, et al. Growth hormone treatment in Noonan syndrome: the National Cooperative Growth Study experience. J Pediatr 1996; 128: S18-21
38. Cotterill AM, McKenna WJ, Brady AF, et al. The short-term effects of growth hormone therapy on height velocity and cardiac ventricular wall thickness in children with Noonan syndrome. J Clin Endocrinol Metab 1996; 81: 2291-7
39. Albertsson-Wikland K, Rosberg S, Isaksson O, et al. Secretory pattern of growth hormone in children of differing growth rates. Acta Endocrinol 1983; 103 Suppl. 256: 72
40. Kelnar CJH. Thyroid disturbances in cytogenetic diseases. Dev Med Child Neurol 1989; 31: 400-4
41. Thomas BC, Stanhope R. Long-term treatment with growth hormone in Noonan's syndrome Acta Paediatr 1993; 82: 853-5
42. Otten BJ. Short stature in Noonan syndrome: demography and response to growth hormone treatment in the Kabi International Growth Study. In: Ranke MB, Gunnarsson R, editors. Progress in growth hormone therapy: 5 years of KIGS. Mannheim: J&J Verlag, 1996: 206-15
43. de Schepper J, Otten BJ, Francois I, et al. Growth hormone therapy in pre-pubertal children with Noonan syndrome: first year growth response and comparison with Turner syndrome. Acta Paediatr 1997; 86: 943-6
44. Municchi G, Pasquino AM, Pucarelli I, et al. Growth hormone treatment in Noonan syndrome: report of four cases who reached final height. Horm Res 1995; 44: 164-7
45. Kirk JMW, Betts PR, Donaldson MDC, et al. Short stature in Noonan syndrome: response to growth hormone therapy. Arch Dis Child 2001; 84: 440-3
46. Brown DC, Macfarlane CE, McKenna WJ, et al. Growth hormone therapy in Noonan Syndrome: non-cardiomyopathic congenital heart disease does not adversely affect growth improvement. J Pediatr Endocrinol Metab 2002; 15: 851-2
47. Noordam C, Draaisma JM, van den Nieuwenhof J, et al. Effects of growth hormone treatment on left ventricular dimensions in children with Noonan's syndrome. Horm Res 2001; 56: 110-3
48. Noordam C, Span J, van Rijn RR, et al. Bone mineral density and body composition in Noonan's syndrome: effects of growth hormone treatment. J Pediatr Endocrinol Metab 2002; 15: 81-7
49. Macfarlane CE, Brown DC, Johnston LB, et al. Growth hormone therapy and growth in children with Noonan syndrome: results of 3 years' follow-up. J Clin Endocrinol Metab 2001; 86 (5): 1953-6
50. Cotterill AM. Effectiveness of growth hormone therapy in Noonan syndrome. In: Hindmarsh PC, editor. Current indications for growth hormone therapy. Basel: Karger, 1999: 118-27
51. Kelnar CJ. Growth hormone therapy in Noonan syndrome. Horm Res 2000; 53 Suppl. 1: 77-81
52. Noordam C, Van der Burgt I, Sengers RC, et al. Growth hormone treatment in children with Noonan's syndrome: four year results of a partly controlled trial. Acta Paediatr 2001; 90: 889-94
53. Lampit M, Hochberg Z. Prevention of growth deceleration after withdrawal of growth hormone therapy in idiopathic short stature. J Clin Endocrinol Metab 2002; 87: 3573-7
54. Smith SL, Hindmarsh PC, Brook CG. Compliance with growth hormone treatment: are they getting it? Arch Dis Child 1993; 68: 91-3
55. Tartaglia M, Kamini K, Shaw A. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 2002; 70: 1555-63
56. Donaldson MDC. Growth hormone therapy in Turner syndrome: current uncertainties and future strategies. Horm Res 1997; 48 Suppl. 5: 35-44
57. Kelnar CJH, Tanaka T. Is there a place for short bursts of growth hormone treatment in short children without significant growth hormone deficiency? Acta Paediatrica Suppl 1994; 406: 67-9
58. Mauras N, Attie KM, Reiter EO, et al. High dose recombinant human growth hormone (GH) treatment of GH-deficient patients in puberty increases near-final height: a randomized, multicenter trial. Genentech Inc Cooperative Study Group. J Clin Endocrinol Metab 2000; 85: 3653-60
59. Buckler JMH. A longitudinal study of adolescent growth. London: Springer Verlag, 1990
60. Kelnar CJH, Stanhope R. Height prognosis in girls with central precocious puberty treated with GnRH analogues. Clin Endocrinol (Oxf) 2002; 56: 295-6
61. Tanner JM, Whitehouse RH, Cameron N, et al. Assessment of skeletal maturity and prediction of adult height (TW2 method). 2nd ed. London: Academic Press, 1983
62. Gruelich WW, Pyle SI. Radiographic atlas of skeletal development of the hand and wrist. 2nd ed. Stanford: Stanford University Press, 1959
63. Bayley N, Pinneau SR. Tables for predicting adult height from skeletal age: revised for use with the Greulich-Pyle hand standards. J Pediatr 1952; 40: 423-41
64. Nussbaum II, Keller E, Hermanussen M. Estimating target height: an analysis of 954 young adults [abstract PI-203]. Clin Endocrinol 2002; 58 Suppl. 2: 59
65. Hermanussen M, Cole TJ. The calculation of target height reconsidered. Horm Res 2003; 59: 180-3
66. Osterziel KJ, Strohm O, Schuler J, et al. Randomized, double-blind, placebo-controlled trial of human recombinant growth hormone in patients with chronic heart failure due to dilated cardiomyopathy. Lancet 1988; 351: 1233-7
67. Burch M, Mann JM, Sharland M, et al. Myocardial disarray in Noonan syndrome. Br Heart J 1992; 68: 586-8
68. Burch M, Sharland M, Shinebourne E, et al. Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of 118 patients J Am Coll Cardiol 1993; 22: 1189-92
69. Wilmshurst PT, Katritsis D. Restrictive and hypertrophic cardiomyopathies in Noonan syndrome: the overlap syndromes. Heart 1996; 75: 94-7
70. Cooke RA, Chambers JB, Curry PV. Noonan's cardiomyopathy: a non-hypertrophic variant. Br Heart J 1994; 71: 561-5
71. Nishikawa T, Ishiyama S, Shimojo T. Hypertrophic cardiomyopathy in Noonan syndrome. Acta Paediatr Jpn 1996 Feb; 38 (1): 91-8
72. Ishizawa A, Oho S, Dodo H, et al. Cardiovascular abnormalities in Noonan syndrome: the clinical findings and treatments. Acta Paediatr Jpn 1996 Feb; 38 (1): 84-90
73. Kelnar CJH. Pride and prejudice: stature in perspective. Acta Paediatr Scand Suppl 1990; 370: 5-15
74. Skuse DH, Gilmour J. Psychological disorders. In: Kelnar CJH, Savage MO, Stirling HF, et al., editors. Growth disorders: pathophysiology and treatment. London: Chapman and Hall, 1998: 483-96
75. Frank NC, Stabler B. Psychological assessment of children with growth deficiency. In: Kelnar CJH, Savage MO, Stirling HF, et al., editors. Growth disorders: pathophysiology and treatment. London: Chapman and Hall, 1998: 265-77
76. Kranzler JH, Rosenbloom AL, Proctor B. Is short stature a handicap? A comparison of the psychosocial functioning of referred and nonreferred children with normal short stature and children with normal stature. J Pediatr 2000; 136: 96-102
77. Radcliffe DJ, Pliskin JS, Silvers JB, et al. Growth hormone (GH) therapy and quality of life in adults and children. Pharmacoeconomics. In press
78. Stabler B, Clopper RR, Siegel PT, et al. Academic achievement and psychological adjustment in short children: the National Cooperative Growth Study. J Dev Behav Pediatr 1994; 15: 1-6
79. Skuse DH, Gilmour J, Tian CS, et al. Psychosocial assessment of children with short stature: a preliminary report. Acta Paediatr Scand 1994; 406: 11-6
80. Sandberg DE, Brook AE, Campos SP. Short stature: a psychosocial burden requiring growth hormone therapy? Pediatrics 1994; 94: 832-40
81. Sandberg DE. Should short children who are not growth hormone deficient be treated? West J Med 2000; 172: 186-9
82. Persico N, Postlethwaite A, Silverman D. The effect of adolescent experience on labor market outcomes: the case of height. Philadelphia (PA): University of Pennsylvania, 2002
83. Mussen PH, Jones MC. Self-conceptions, motivations, and interpersonal attitudes of late- and early-maturing boys. Child Dev 1957; 28: 243-56