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Growth hormone insensitivity syndromes

1995; Wiley; Volume: 84; Issue: s411 Linguagem: Inglês

10.1111/j.1651-2227.1995.tb13871.x

1651-2227

MO Savage, LMS Carlsson, PG Chatelain, MB Ranke, RG Rosenfeld,

Sexual Differentiation and Disorders

Acta PaediatricaVolume 84, Issue s411 p. 87-90 Growth hormone insensitivity syndromes MO Savage, MO Savage Division of Paediatric Endocrinology. St Burtholomew's Hospital, London, UKSearch for more papers by this authorLMS Carlsson, LMS Carlsson Research Centre for Endocrinology, Sahlgrenska Hospital, Gothenburg, SwedenSearch for more papers by this authorPG Chatelain, PG Chatelain Service de Pédiatrie, Hôpital Debrousse, Lyon, FranceSearch for more papers by this authorMB Ranke, MB Ranke Universitäts-Kinderklinik, Section of Paediatric Endocrinology, Tübingen, GermanySearch for more papers by this authorRG Rosenfeld, RG Rosenfeld Division of Paediatric Endocrinology, Oregon Heulth Sciences University, Portland, Oregon, USASearch for more papers by this author MO Savage, MO Savage Division of Paediatric Endocrinology. St Burtholomew's Hospital, London, UKSearch for more papers by this authorLMS Carlsson, LMS Carlsson Research Centre for Endocrinology, Sahlgrenska Hospital, Gothenburg, SwedenSearch for more papers by this authorPG Chatelain, PG Chatelain Service de Pédiatrie, Hôpital Debrousse, Lyon, FranceSearch for more papers by this authorMB Ranke, MB Ranke Universitäts-Kinderklinik, Section of Paediatric Endocrinology, Tübingen, GermanySearch for more papers by this authorRG Rosenfeld, RG Rosenfeld Division of Paediatric Endocrinology, Oregon Heulth Sciences University, Portland, Oregon, USASearch for more papers by this author First published: September 1995 https://doi.org/10.1111/j.1651-2227.1995.tb13871.xCitations: 5AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL References 1 Laron Z, Blum WF, Chatelain PG et al. Classification of growth hormone insensitivity syndrome. J Pediatr 1993; 122: 241. 2 Laron Z. Laron-type dwarfism (hereditary somatomedin deficiency): A review. In: H Frick, G-A Harnack, K Kochesiek, GA Martini, A Prader, eds. Advances in Internal Medicine. Nicht im Handel , Germany : Springer-Verlag, 1984; 117– 50. 3 Rosenbloom AL, Aguirre JG, 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. 4 Savage MO, Blum WF, Ranke MB et al. Clinical features and endocrine status in patients with growth hormone insensitivity (Laron syndrome). J Clin Endocrinol Metab 1993; 77: 1465– 71. 5 Guevara-Aguirre J, Rosenbloom AL, Fielder PJ, Diamond FB, Rosenfeld RG. Growth hormone receptor deficiency in Ecuador: clinical and biochemical phenotype in two populations. J Clin Endocrinol Metab 1993; 76: 414– 23. 6 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. Hum Mutat 1992; 1: 24– 34. 7 Schaefer GB, Rosenbloom AL, Guevara-Aguirre J et al. Facial morphometry of Ecuadorian patients with growth hormone receptor deficiencyilaron syndrome. J Med Genet 1994; 31: 635– 9. 8 Rosenfeld RG, Rosenbloom AL, Guevara-Aguirre J. Growth hormone (GH) insensitivity due to primary GH receptor deficiency. Endocr Rev 1994; 15: 369– 90. 9 Duquesnoy P, Sobrier M-L, Duriex 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: 1386– 95. 10 Fielder PJ, Guevara-Aguirre J, Rosenbloom AL, Carlsson L, Hintz RL, Rosenfeld RG. Expression of serum insulin-like growth factors (IGFs), IGF-binding proteins (IGFBPs), and the growth hormone-binding protein (GHBP) in heterozygote relatives of Ecuadorian GH-receptor deficient patients. J Clin Endocrinol Metab 1992; 74: 743– 50. 11 Kerrigan JR, Martha PM, Blizzard RM, Christie CM, Rogol AD. Variations of pulsatile growth hormone release in healthy short prepubertal boys. Pediatr Res 1990; 28: 11– 14. 12 Blum WF, Ranke MB, Savage MO, Hall K. Insulin-like growth factors and their binding proteins in patients with growth hormone receptor deficiency: suggestions for new diagnostic criteria. Acta Paediatr Suppl 1992; 383: 125– 6. 13 Buchanan CR, Maheshwari HG, Norma MR, Morrell DJ, Preece MA. Laron-type dwarfism with apparently normal high affinity serum growth hormone binding protein. Clin Endocrinol 1991; 35: 179– 85. 14 Leonard J, Samuels M, Cotterill AM, Savage MO. Effects of recombinant IGF-I on craniofacial morphology in growth hormone insensitivity syndrome. Acta Paediatr Suppl 1994; 399: 140– 1. 15 Veldhuis JD, Blizzard RM, Rogol AD, Martha PM, Kirkland JL, Sherman BM. Genentech Collaborative Study Group. Properties of spontaneous growth hormone secretory bursts and half-life of endogenous growth hormone in boys with idiopathic short stature. J Clin Endocrinol Metab 1992; 74: 766– 73. 16 Fontoura M, Mugnier E, Brauner R, Rappaport R, Postel-Vinay MC. Effect of growth honnone on the low level of growth hormone binding protein in idiopathic short stature. Clin Endocrinol 1992; 37: 249– 53. 17 Carlsson LMS, Attie KM, Compton PG, Vitangcol RV, Merimee TJ and 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. 18 Goddard AD, Covello R, Luoh SM et al. Growth hormone receptor mutations in idiopathic short stature. N Engl J Med 1995 (in press). 19 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: 1256– 61. 20 Walker JL, Ginalska-Malinowska A, 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 dwarfism). N Engl J Med 1991; 324: 1483– 8. 21 Vaccerello M, Diamond FB, Guevara-Aguirra J et al. Hormonal and metabolic effects of pharmacokinetics of recombinant insulin-like growth factor-I in growth hormone receptor deficiency (GHRD)/Laron syndrome. J Clin Endocrinol Metab 1993; 77: 273– 80. 22 Niwa M, Sato Y, Uchiyano F, Ono H, Yamashita M, Kitaguchi T. Chemical synthesis, cloning and expression of genes for human somatomedin-C (insulin-like growth factor I). Ann NY AcadSci 1986; 469: 31– 52. 23 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; 391: 9– 13. 24 Wilson KF, Fileder 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– 408. 25 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: 1393– 8. 26 Ranke MB, Savage MO, Chatelain PG et al. Insulin-like growth factor (IGF)-I improves height in growth hormone insensitivity. Two years results. Horm Res 1995 (in press). 27 Heinrichs C, Vis HL, Bergmann P, Wilton P, Bourguignon J-P. 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– 51. 28 Savage MO, Wilton P, Ranke MB et al. Therapeutic response to recombinant IGF-I in patients with growth hormone insensitivity syndromes (CHIS). Pediatr Res Suppl 1993; 33: Abstract 17. 29 Wilton P. Treatment with recombinant human insulin-like growth factor I of children with growth hormone receptor deficiency (Laron syndrome). Acta Paediatr Suppl 1992; 383: 137– 41. 30 Ranke MB, Wilton P. Adverse events during treatment with recombinant insulin-like growth factor I in patients with growth hormone insensitivity. Acta Paediatr Suppl 1994; 339: 143– 5. Citing Literature Volume84, Issues411September 1995Pages 87-90 ReferencesRelatedInformation