Update on new GH-IGF axis genetic defects

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art_VASQUES_Update_on_new_GHIGF_axis_genetic_defects_2019.PDF (397 KB)
Citações na Scopus
12
Tipo de produção
article
Data de publicação
2019
DOI
SciELO
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA
Autores
Citação
ARCHIVES OF ENDOCRINOLOGY METABOLISM, v.63, n.6, p.608-617, 2019
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
The somatotropic axis is the main hormonal regulator of growth. Growth hormone (GH), also known as somatotropin, and insulin-like growth factor 1 (IGF-1) are the key components of the somatotropic axis. This axis has been studied for a long time and the knowledge of how some molecules could promote or impair hormones production and action has been growing over the last decade. The enhancement of large-scale sequencing techniques has expanded the spectrum of known genes and several other candidate genes that could affect the GH-IGF1-bone pathway. To date, defects in more than forty genes were associated with an impairment of the somatotropic axis. These defects can affect from the secretion of GH to the bioavailability and action of IGF-1. Affected patients present a large heterogeneous group of conditions associated with growth retardation. In this review, we focus on the description of the GH-IGF axis genetic defects reported in the last decade.
Palavras-chave
Growth hormone, short stature, IGF, somatotropic axis
URI
https://observatorio.fm.usp.br/handle/OPI/35386
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Coleções
Artigos e Materiais de Revistas Científicas - FM/MCM
Artigos e Materiais de Revistas Científicas - HC/ICESP
Artigos e Materiais de Revistas Científicas - LIM/25