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...

hrp0095p1-501 | GH and IGFs | ESPE2022

IGFBP-3 assessment in the work-up of short stature

DeodatiAnnalisa , Inzaghi Elena , Elisa Amodeo Maria , Cianfarani Stefano

Background: The diagnosis of GH deficiency (GHD) is not straightforward in childhood and adolescence, requiring comprehensive clinical, anthropometric, biochemical, endocrine, and neuroradiological assessment. Although pharmacological GH stimulation tests are still considered the gold standard for GHD diagnosis, they are burdened by both poor specificity and side effects. Several studies have addressed the issue of sensitivity and specificity of IGFBP-3 assess...

hrp0089p2-p324 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Endocrine-Metabolic Characterization of Pediatric Patients with Craniopharyngioma: A Single-centre Cohort study

Pedicelli Stefania , Sette Giulia , Cianfarani Stefano , Cappa Marco

Craniopharyngioma is a rare, embryonic malformation of the sellar/parasellar region with low histological grade. In childhood-onset craniopharyngioma (CoCR), endocrine dysfunctions, severe obesity and metabolic syndrome (MetS), neurological impairment and reduced quality of life have been described as consequences of both localization and treatment. To characterize a population with CoCR and to correlate endocrine/metabolic sequelae with different surgery approach we performed...

hrp0086rfc4.7 | Pathophysiology of Obesity | ESPE2016

Prevalence and Characterization of Retinal Alterations in a Cohort of Overweight and Obese Children

Pedicelli Stefania , Bizzarri Carla , Romanzo Antonino , Cianfarani Stefano , Cappa Marco

Background: Increasing incidence of pediatric obesity has been observed worldwide. Metabolic syndrome, characterized by visceral obesity, dyslipidemia, hypertension and impaired glucose metabolism, is associated with obesity.Objective and hypotheses: To evaluate early ocular signs of hypertension by retinography in a cohort of overweight (BMI>85th)/obese (BMI>95th) children, in order to define the prevalence of retinal alterations and characteriz...

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...

hrp0095p1-297 | GH and IGFs | ESPE2022

rhGH therapy in a patient with homozygous IGF1R mutation

Elisa Amodeo Maria , Deodati Annalisa , Mirra Giulia , Tattesi Giulia , Cianfarani Stefano

Background: IGFR1 gene plays a crucial role in growth and glucose metabolism. IGF1R mutations account for approximately 10% of children born SGA with no catch-up growth. rhGH therapy has been reported moderately effective in stimulating growth of children with heterozygous IGF1R mutation. To date, no data are available about the efficacy of rhGH in patients with homozygous mutations.Case report: We describe a 4 years-old...

hrp0095p1-502 | GH and IGFs | ESPE2022

A real life evaluation of rhGH efficacy in children born SGA

Tattesi Giulia , Deodati Annalisa , Inzaghi Elena , Elisa Amodeo Maria , Bizzarri Carla , Cappa Marco , Cianfarani Stefano

Background: Children born SGA are at risk of becoming short adults. Although most children born SGA show catch-up growth in the first 24 months of life, approximately 10% remain below the 3rd centile throughout childhood and adolescence. The available evidence shows that GH therapy can increase adult height in short children born SGA although long-term response is variable and closely related to the 1st year response.Aims:</stron...

hrp0095p2-99 | Fat, Metabolism and Obesity | ESPE2022

Gender differences in Italian pediatric obese subjects

Inzaghi Elena , Tarissi Isabella , Deodati Annalisa , Fintini Danilo , Villani Alberto , Cianfarani Stefano

Background: Significant aspects of metabolic homeostasis are regulated differently in males and females and sex differences can influence diagnostic approach and therapeutic responses. The underlying mechanisms accounting for gender difference remain to be established and may involve genetic and hormonal factors.Aim: This study aimed at evaluating gender differences in anthropometric and metabolic parameters in a large c...

hrp0092p1-386 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

Prevalence of Copy Number Variations (CNVs) in a Cohort of SGA Children with Persistent short Stature Associated with Additional Clinical Features.

Inzaghi Elena , Deodati Annalisa , Bizzarri Carla , Ubertini GraziaMaria , Pedicelli Stefania , Cappa Marco , Cianfarani Stefano

Background: Multiple factors may affect intrauterine growth leading to birth of children small for gestational age (SGA). The impact of subtle genetic alterations on both pre and post-natal growth is still largely unknown.Objective and Hypotheses: The aim of this study was to investigate the prevalence of CNVs in a cohort of SGA children with persistent short stature.Subjects and Methods</s...

hrp0089rfc4.4 | GH &amp; IGFs | ESPE2018

A Longitudinal Study on miRNAs Circulating Levels in a Cohort of SGA and AGA Subjects, Evaluated During Childhood and Young Adulthood

Inzaghi Elena , Kistner Anna , Deodati Annalisa , Germani Daniela , Legnevall Lena , Vanpee Mireille , Berinder Katarina , Cianfarani Stefano

Background: Low birth weight is associated with increased cardio-metabolic diseases in adulthood. Specific circulating miRNA seem to be predictive of cardio-metabolic risk.Objective: Our aim was to investigate the circulating levels of mir-122, mir-16, mir-126, and mir-486 in a cohort of SGA and AGA subjects, evaluated longitudinally in childhood and early adulthood.Method: Anthropometric and biochemical-metabolic evaluations were ...