Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)

impe0096p81 | GH and IGFs | IMPE2023

Functional characterization of a novel intronic IGF1R gene variant.

Perez Garrido Natalia , Ramirez Pablo , Isabel Di Palma Maria , Ludmila Garcia Maria , Plomer Paula , Saraco Nora , Belgorosky Alicia , Guercio Gabriela , Ciaccio Marta , Marino Roxana

Background: IGF-1 receptor (IGF-1R) is widely expressed across many cell types in fetal and postnatal tissues. IGF-1R activation by IGF-1 and IGF-2 generates several responses including proliferation, and the protection of cells from apoptosis. Signaling through IGF-1R is the principal pathway responsible for somatic growth in fetal mammals, whereas in postnatal animals is achieved through synergistic interaction of growth hormone and the IGFs. IGF-1R gene mut...