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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
MeSH Review

Laron Syndrome

 
 
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Disease relevance of Laron Syndrome

  • To cross-validate the two methods and permit comparison of results obtained in the two assays, we measured GHBP by both methods in 61 plasma samples from normal adults (aged 19-69), 10 patients with acromegaly, 2 patients with Laron dwarfism, and in a normal adult plasma pool [1].
  • These findings suggest that IGF-I therapy appears as an appropriate treatment in hypogonadism only when this is associated to conditions of IGF-I deficiency (such as Laron Syndrome or liver cirrhosis) [2].
  • The growth hormone receptor (GHR), a member of the cytokine receptor superfamily that gives rise to a soluble and circulating counterpart (GHBP), is the main target of Laron syndrome (LS), a severe autosomal recessive dwarfism characterized by complete GH insensitivity [3].
 

High impact information on Laron Syndrome

 

Chemical compound and disease context of Laron Syndrome

  • The first homozygous mutation (S226I) in the highly-conserved WSXWS-like motif of the GH receptor causing Laron syndrome: supression of GH secretion by GnRH analogue therapy not restored by dihydrotestosterone administration [9].
  • Treatment with recombinant human insulin-like growth factor I of children with growth hormone receptor deficiency (Laron syndrome). Kabi Pharmacia Study Group on Insulin-like Growth Factor I Treatment in Growth Hormone Insensitivity Syndromes [10].
  • We present clinical, biochemical and molecular evidence of Laron syndrome as the result of a mutation (ATG-->TTG) in the codon for the initial methionine of the GHR gene [11].
 

Biological context of Laron Syndrome

 

Anatomical context of Laron Syndrome

 

Gene context of Laron Syndrome

  • We have previously described two families (H and M) with GH binding protein-positive Laron Syndrome (LS), proposed to have one or more post GHR signaling defects [19].
  • We have investigated and compared GH and epidermal growth factor (EGF) signaling in primary human skin fibroblasts from normal subjects and subjects with GH-binding protein-positive Laron syndrome (LS) [17].
  • CONCLUSION: The results obtained in Laron syndrome, isolated GH deficiency and constitutional short stature patients treated with IGF-I or GH, indicate that serum insulin had consistently an inverse relation with the levels of circulating SHBG [20].
  • Growth hormone insensitivity syndrome (Laron syndrome): main characteristics and effects of IGF1 treatment [21].
  • We have evaluated the effect of long-term IGF-I treatment on serum IGF-binding protein (IGFBP)-3 and the acid-labile subunit (ALS) in three sibling with Laron syndrome caused by a GH post-receptor defect and with normal GHBP [16].

References

  1. Growth hormone-binding protein determination in plasma: a comparison of immunofunctional and growth hormone-binding assays. Mercado, M., Carlsson, L., Vitangcol, R., Baumann, G. J. Clin. Endocrinol. Metab. (1993) [Pubmed]
  2. Little effects of insulin-like Growth Factor-I on testicular atrophy induced by hypoxia. Diez-Caballero, F., Castilla-Cortázar, I., Garcia-Fernandez, M., Puche, J.E., Diaz-Sanchez, M., Casares, A.D., Aliaga-Montilla, M.A., Rodriguez-Borrajo, C., Gonzalez-Barón, S. BMC urology [electronic resource]. (2006) [Pubmed]
  3. Molecular basis of inherited growth hormone resistance in childhood. Amselem, S., Sobrier, M.L., Dastot, F., Duquesnoy, P., Duriez, B., Goossens, M. Baillieres Clin. Endocrinol. Metab. (1996) [Pubmed]
  4. Growth hormone-receptor gene in Laron dwarfism. Bass, S., Wells, J. N. Engl. J. Med. (1990) [Pubmed]
  5. Laron dwarfism and mutations of the growth hormone-receptor gene. Amselem, S., Duquesnoy, P., Attree, O., Novelli, G., Bousnina, S., Postel-Vinay, M.C., Goossens, M. N. Engl. J. Med. (1989) [Pubmed]
  6. Defective membrane expression of human growth hormone (GH) receptor causes Laron-type GH insensitivity syndrome. Duquesnoy, P., Sobrier, M.L., Amselem, S., Goossens, M. Proc. Natl. Acad. Sci. U.S.A. (1991) [Pubmed]
  7. The role of HNF-1alpha in controlling hepatic catalase activity. Muppala, V., Lin, C.S., Lee, Y.H. Mol. Pharmacol. (2000) [Pubmed]
  8. Growth hormone insensitivity syndrome due to point deletion and frame shift in the growth hormone receptor. Counts, D.R., Cutler, G.B. J. Clin. Endocrinol. Metab. (1995) [Pubmed]
  9. The first homozygous mutation (S226I) in the highly-conserved WSXWS-like motif of the GH receptor causing Laron syndrome: supression of GH secretion by GnRH analogue therapy not restored by dihydrotestosterone administration. Jorge, A.A., Souza, S.C., Arnhold, I.J., Mendonca, B.B. Clin. Endocrinol. (Oxf) (2004) [Pubmed]
  10. Treatment with recombinant human insulin-like growth factor I of children with growth hormone receptor deficiency (Laron syndrome). Kabi Pharmacia Study Group on Insulin-like Growth Factor I Treatment in Growth Hormone Insensitivity Syndromes. Wilton, P. Acta paediatrica (Oslo, Norway : 1992). Supplement. (1992) [Pubmed]
  11. Novel mutation involving the translation initiation codon of the growth hormone receptor gene (GHR) in a patient with Laron syndrome. Quinteiro, C., Castro-Feijoo, L., Loidi, L., Barreiro, J., de la Fuente, M., Dominguez, F., Pombo, M. Journal of pediatric endocrinology & metabolism : JPEM. (2002) [Pubmed]
  12. Lack of hormone binding in COS-7 cells expressing a mutated growth hormone receptor found in Laron dwarfism. Edery, M., Rozakis-Adcock, M., Goujon, L., Finidori, J., Lévi-Meyrueis, C., Paly, J., Djiane, J., Postel-Vinay, M.C., Kelly, P.A. J. Clin. Invest. (1993) [Pubmed]
  13. Expression of serum insulin-like growth factors, insulin-like growth factor-binding proteins, and the growth hormone-binding protein in heterozygote relatives of Ecuadorian growth hormone receptor deficient patients. Fielder, P.J., Guevara-Aguirre, J., Rosenbloom, A.L., Carlsson, L., Hintz, R.L., Rosenfeld, R.G. J. Clin. Endocrinol. Metab. (1992) [Pubmed]
  14. Amino acid substitutions in the intracellular part of the growth hormone receptor in a patient with the Laron syndrome. Kou, K., Lajara, R., Rotwein, P. J. Clin. Endocrinol. Metab. (1993) [Pubmed]
  15. The D152H mutation found in growth hormone insensitivity syndrome impairs expression and function of human growth hormone receptor but is silent in rat receptor. Esposito, N., Wojcik, J., Chomilier, J., Martini, J.F., Kelly, P.A., Finidori, J., Postel-Vinay, M.C. J. Mol. Endocrinol. (1998) [Pubmed]
  16. Long-term effects of insulin-like growth factor (IGF)-I on serum IGF-I, IGF-binding protein-3 and acid labile subunit in Laron syndrome patients with normal growth hormone binding protein. Kanety, H., Silbergeld, A., Klinger, B., Karasik, A., Baxter, R.C., Laron, Z. Eur. J. Endocrinol. (1997) [Pubmed]
  17. GH and epidermal growth factor signaling in normal and Laron syndrome fibroblasts. Silva, C.M., Kloth, M.T., Whatmore, A.J., Freeth, J.S., Anderson, N., Laughlin, K.K., Huynh, T., Woodall, A.J., Clayton, P.E. Endocrinology (2002) [Pubmed]
  18. Body fat in Laron syndrome patients: effect of insulin-like growth factor I treatment. Laron, Z., Klinger, B. Horm. Res. (1993) [Pubmed]
  19. 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. Freeth, J.S., Silva, C.M., Whatmore, A.J., Clayton, P.E. Endocrinology (1998) [Pubmed]
  20. Comparative effects of GH, IGF-I and insulin on serum sex hormone binding globulin. Gafny, M., Silbergeld, A., Klinger, B., Wasserman, M., Laron, Z. Clin. Endocrinol. (Oxf) (1994) [Pubmed]
  21. Growth hormone insensitivity syndrome (Laron syndrome): main characteristics and effects of IGF1 treatment. Carel, J.C., Chaussain, J.L., Chatelain, P., Savage, M.O. Diabetes Metab. (1996) [Pubmed]
 
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