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...

hrp0094yb1.4 | Year of Paediatric Endocrinology 1 | ESPE2021

Growth and Growth Factors

Cianfarani Stefano , Inzaghi Elena , Pampanini Valentina , Fintini Danilo ,

Long-term safety of rhGH therapy in childhood has been object of intense investigation in the last decade. Two recent observational studies have focused on the risk of cardiovascular diseases in young adults treated with rhGH during childhood. After subdividing the large cohorts of patients in different risk groups they found that both mortality and morbidity from cardiovascular diseases were higher than the general population in the low risk group including patients with isol...

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...

hrp0097p1-74 | Fat, Metabolism and Obesity | ESPE2023

A novel mutation of leptin gene in two siblings with early onset obesity

Deodati Annalisa , amodeo mariaelisa , mirra giulia , pampanini valentina , cianfarani stefano

Background: Congenital leptin deficiency is a rare cause of early-onset severe obesity. Clinical features of congenital leptin deficiency include early-onset severe obesity, marked hyperphagia, endocrine and metabolic alterations. Some patients have immune dysregulation.Case report: We describe two siblings from Libya referred for severe obesity. A boy (patient 1) referred at the age of 4 years and 3 months and a girl (p...

hrp0097p1-148 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Prevalence of brain alterations in boys with isolated central precocious puberty

Amodeo Mariaelisa , Deodati Annalisa , Pedicelli Stefania , Pampanini Valentina , Cianfarani Stefano

Introduction: Brain magnetic resonance imaging (MRI) is routinely performed to identify brain lesions in boys with central precocious puberty (CPP). In contrast to girls, in whom more than 90% of cases are idiopathic, it has been reported that 4 up to 75% of boys with CPP have pathological brain lesions.Aim: to evaluate the prevalence of brain lesions in males with isolated CPP and to identify potential clinical and bioc...

hrp0089p1-p238 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Effect of Intrauterine Growth Restriction on Ovarian Follicle Pool

Pampanini Valentina , Germani Daniela , Puglianiello Antonella , Jahnukainen Kirsi , Sahlin Lena , Cianfarani Stefano , Soder Olle

Introduction: A low oxygen and/or nutrient supply to the fetus, resulting in intrauterine growth restriction (IUGR), can affect gonadal development of the offspring and have a potential impact on fertility. Epidemiological studies on subjects born small for gestational age (SGA), as a surrogate measure of IUGR, have reported contradictory results. Data derived from animal models of placental insufficiency are limited.Objective and hypotheses: To investig...

hrp0086fc4.3 | Pathophysiology of Obesity | ESPE2016

Expression of Type 1 Insulin-like Growth Factor Receptor (IGF-1R) in Liver of Obese Children with Non-alcoholic Fatty Liver Disease (NAFLD)

Pampanini Valentina , De Stefanis Cristiano , Alisi Anna , Inzaghi Elena , Nobili Valerio , Cianfarani Stefano

Background: Type 1 insulin-like growth factor receptor (IGF-1R) is the product of a single-copy gene located on chromosome 15 and is ubiquitously expressed in humans. Increased hepatic IGF-1R gene expression is found in hepatocellular carcinoma and in chronic hepatitis C, making parenchymal and non-parenchymal cells more susceptible to the mitogenic effects of IGF-1.Objective and hypotheses: As we have previously demonstrated that IGF-1 and IGF-2 circula...

hrp0082p2-d2-383 | Fat Metabolism & Obesity (1) | ESPE2014

Fetuin A Serum Levels in Children with Nonalcoholic Fatty Liver Disease

Pampanini Valentina , Inzaghi Elena , Nobili Valerio , Germani Daniela , Puglianiello Antonella , Cianfarani Stefano

Background: Fetuin A is a hepatokine known as a natural inhibitor of the insulin receptor tyrosine kinase and is associated with insulin resistance and nonalcoholic fatty liver disease (NAFLD). Studies on adults provided conflicting results regarding the link between fetuin A and the severity of liver damage in NAFLD. Data on children are limited.Objective: To investigate the relationship between fetuin A, metabolic parameters, and NAFLD in obese childre...

hrp0082p2-d1-415 | Growth Hormone | ESPE2014

IGF1 is Associated with a More Favourable Pattern of Body Composition in Obese Children

Inzaghi Elena , Pampanini Valentina , Alessio Paola , Fiori Rossana , Ferroli Barbara Baldini , Cianfarani Stefano

Background: Recent studies have suggested a role of IGF1 as a candidate prognostic marker for cardiometabolic complications of obesity.Objective: To investigate the relationship between IGF1 serum levels and both biochemical and metabolic parameters as well as body composition in a cohort of obese children.Methods: obese subjects (130F/157M), aged 11.2±2.7 years, were studied. Anthropometry, biochemical and metabolic parameter...

hrp0095p1-61 | Diabetes and Insulin | ESPE2022

Increased incidence of childhood type 1 diabetes during COVID-19 pandemic. Figures from an Italian tertiary care center

Deodati Annalisa , Rapini Novella , Pampanini Valentina , Ciampalini Paolo , Cristina Matteoli Maria , Patriza Patera Ippolita , Schiaffini Riccardo , Stefano Cianfarani

Background: CDC (Centers for Disease Control and Prevention) reported an increased risk of newly diagnosed diabetes over 30 days after SARS-CoV-2 infection among persons aged < 18 years. Similarly, the results from the DPV Registry demonstrated a significant increase in the incidence of pediatric Type 1 Diabetes during COVID-19 pandemic. The underlying mechanisms are not yet elucidated.Aim: To investigate the incidenc...