Growth hormone insensitivity syndrome (Laron syndrome): Main characteristics and effects of IGF1 treatment;Syndrome d'insensibilite a l'hormone de croissance (syndrome de Laron): Principales caracteristiques et effet d'un traitement par l'IGF-1

Diabetes and Metabolism

Volumn 22, Issue 4, 1996, Pages 251-256

  Carel, J C ^a   Chaussain, J L ^a   Chatelain, P ^b   Savage, M O ^c  

^a HÔPITAL SAINT VINCENT DE PAUL   (France)

^b HÔPITAL DEBROUSSE   (France)

^c ST BARTHOLOMEW S HOSPITAL   (United Kingdom)

Author keywords

growth hormone insensitivity; insulin like growth factor 1; Laron syndrome

Indexed keywords

SOMATOMEDIN C;

DRUG EFFECT; DRUG SCREENING; HORMONE RESISTANCE; HUMAN; HYPOKALEMIA; INTRACRANIAL HYPERTENSION; LARON SYNDROME; PHENOTYPE; REVIEW;

GENETIC HETEROGENEITY; GROWTH HORMONE; HUMANS; INSULIN-LIKE GROWTH FACTOR I; PHENOTYPE; RECEPTORS, SOMATOTROPIN; SYNDROME;

EID: 0030054361     PISSN: 03381684     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (34)

1. Laron Z, Blum W, Chatelain P, 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 : Frick H, von Harnack GA, Kochesiek K, Martini GA, Prader A, eds. Advances in Internal Medicine, Nicht im Handel, Germany : Springer-Verlag, 1984, 117-150.
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, 1367-1374.
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, 1465-1471.
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, 414-423.
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 deficiency/Laron syndrome. J Med Genet, 1994, 31, 635-639.
8. Amselem S, Sobrier ML, Duquesnoy P, et al. Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism. J Clin Invest, 1991, 87, 1098-1102.
9. Amselem S, Duquesnoy P, Duriez B, et al. Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome. Hum Mol Genet, 1993, 2, 355-359.
10. Goossens M, Amselem S, Duquesnoy P, Sobrier ML. Molecular genetics of Laron-type GH insensitivity syndrome. Recent Prog Horm Res, 1993, 48, 165-178.
11. Rosenfeld RG, Rosenbloom AL, Guevara-Aguirre J. Growth hormone (GH) insensitivity due to primary GH receptor deficiency. Endocr Rev, 1994, 15, 369-390.
12. Duquesnoy P, Sobrier ML, 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, 1386-1395.
13. 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, 743-750.
14. 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.
15. 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, 125-126.
16. 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 (Oxf), 1991, 35, 179-185.
17. Leonard J, Samuels M, Cotterill AM, Savage MO. Effects of recombinant IGF-I on craniofacial morphology in growth hormone insensitivity syndrome. Acta Pediatr Suppl, 1994, 399, 140-141.
18. Carlsson LMS, Attie KM, Compton PG, Vitangcol 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, 1325-1330.
19. Goddard AD, Covello R, Luoh SM, et al. Growth hormone receptor mutations in idiopathic short stature. N Engl J Med, 1995, 333, 1093-1098.
20. 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, 1256-1261.
21. 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, 1483-1488.
22. Vaccarello MA, Diamond FB, Jr., Guevara Aguirre J, et al. Hormonal and metabolic effects and pharmacokinetics of recombinant insulin-like growth factor-I in growth hormone receptor deficiency/Laron syndrome. J Clin Endocrinol Metab, 1993, 77, 273-280.
23. 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 Acad Sci, 1986, 469, 31-52.
24. 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.
25. 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.
26. 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.
27. Ranke MB, Savage MO, Chatelain PG, et al. Insulin-like growth factor (IGF)-I improves height in growth hormone insensitivity. Two-year results. Horm Res, 1995, 44, 253-264.
28. Heinrichs C, Vis HL, Bergmann P, Wilton P, Bourguignon JP. Effects of 17-month treatment using recombinant insulin-like growth factor-I in two children with growth hormone insensitivity (Laron) syndrome. Clin Endocrinol (Oxf), 1993, 38, 647-651.
29. 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, 1393-1398.
30. 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, 137-142.
31. Laron Z, Klinger B. Body fat in Laron syndrome patients : effect of insulin-like growth factor I treatment. Horm Res, 1993, 40, 16-22.
32. Wilson KF, Fielder PJ, Guevara-Aguirre J, et al. Long-term effects of insulin-like growth factor (IGF-1) treatment on serum IGFs and IGF binding proteins in adolescent patients with growth hormone receptor deficiency. Clin Endocrinol (Oxf), 1995, 1282, 7711.
33. Giannella-Neto D, Wajchenberg BL, Mendonca BB, et al. Somatomedin levels in the diagnosis and therapy of growth hormone deficiency. Horm Metab Res, 1988, 20, 175-181.
34. 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, 143-145.