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Revista Universidad y Sociedad
versão On-line ISSN 2218-3620
Resumo
RAMIREZ LOPEZ, Lotty Rosita; VINUEZA LOPEZ, David Eduardo; JACOME SANCHEZ, Maribel Fernanda e VITERI RODRIGUEZ, Juan Alberto. Laron type dwarf, the syndrome with reduced incidence in diabetes and cancer: bibliographic review. Universidad y Sociedad [online]. 2021, vol.13, n.6, pp. 548-554. Epub 10-Dez-2021. ISSN 2218-3620.
Laron syndrome is a rare genetic disease that has attracted great interest due to its phenotypic characteristics. A bibliographic review on the epidemiology, molecular and clinical pathophysiology and treatment of this disease is presented. A systematic search was conducted on available scientific research in high-impact, regional journal articles, scientific projects, and clinical trials. The most relevant phenotypic characteristic is dwarfism caused by resistance to growth hormone and low or no concentrations of insulin-like growth factor-1 (IGF-1) accompanied by bone, metabolic and gonadal defects. In total, more than 60 mutations have been found and one in particular E180 found in the Ecuadorian population where there is a high prevalence of this disease and a lower risk of generating diabetes is attributed; Several studies created very interesting theories regarding a low predisposition to develop cancer in Laron-type patients, where there are studies that reinforce this theory, but in terms of resistance to generating diabetes, there are cases and studies that disagree. The results of various studies invite further research regarding the genetics of this disease and its triggered metabolic effects.
Palavras-chave : Laron syndrome; growth hormone resistance; insulin-like growth factor-1 (IGF-1); recombinant insulin-like growth factor-1 (IGF-1).