hrp0095fc8.5 | Diabetes and Insulin | ESPE2022

Pancreas Unfolded Protein Response is activated in Intrauterine Growth Restriction

Deodati Annalisa , Fausti Francesca , Pampanini Valentina , Cianfarani Stefano

Background: Intrauterine growth restriction (IUGR) is associated with higher risk of cardiometabolic disease. Perturbation of endoplasmic reticulum (ER) homeostasis activates a set of ER-to-nucleus signaling pathways known as unfolded protein response (UPR). We previously showed that IUGR is associated with the activation of hepatic UPR and abnormal glucose profile in male Sprague-Dawley rats. Herein, we report the impact of IUGR on pancreas UPR in the same ex...

hrp0097rfc11.4 | GH and IGFs | ESPE2023

Functional analysis of a novel mutation of IGF1R gene in two twins with growth failure. An example of genotype-phenotype heterogeneity.

Deodati Annalisa , Fausti Francesca , Pampanini Valentina , Cianfarani Stefano

Background: IGF1 receptor (IGF1R) mutations are associated with pre- and post-natal growth retardation. We describe two monozygotic twins, one of them born small for gestational age (SGA), referred at the age 4 years and 2 months for short stature.Case presentation: The twins were born from non-consanguineous parents at 37-weeks gestational age by caesarean delivery. At birth: patient 1 had weight 2.076 kg (−2.4 SD...