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...

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 ...

hrp0089p2-p167 | Fat, Metabolism and Obesity P2 | ESPE2018

Metabolic Alteration in Patients Affected by PseudoHypoParathyroidismo 1a (PHP1a): A Preliminary Data

Fintini Danilo , Ubertini Graziamaria , Scire Giuseppe , Covertino Alessio , Bocchini Sarah , Deodati Annalisa , Cappa Marco

Pseudohypoparathyroidism (PHP) is a rare disease characterized by hormone resistance due to defect of the α subunit of the stimulatory G protein (Gsα). Hypocalcemia due to parathyroid hormone (PTH) resistance is common. PHP1a determined by maternal LoF mutations in GNAS, presents severe obesity as early feature with increased risk of developing metabolic derangement during life. The aim of the study was to evaluate the metabolic alteration in a population of...

hrp0086fc10.2 | Perinatal Endocrinology | ESPE2016

Liver UPR and Metabolic Consequences in an Animal Model of Intrauterine Growth Retardation (IUGR)

Deodati Annalisa , Argemi JosepMaria , Puglianiello Antonella , Germani Daniela , Ferrero Roberto , Aragon Tomas , Cianfarani Stefano

Background: Endoplasmic reticulum (ER) is the site where proteins are folded in the cell. Metabolic stress alters ER homeostasis and activates the unfolded protein response (UPR), which contributes to the development of insulin resistance and metabolic syndrome.Objective and hypotheses: To longitudinally evaluate liver UPR and its functional consequences in an animal model of IUGR followed from birth to adulthood.Method: On day 19 ...

hrp0082p2-d2-521 | Pituitary (1) | ESPE2014

Association of Pituicytoma and Cushing’s Disease: a Rare Pediatric Case

Ciccone Sara , Cambiaso Paola , Longo Daniela , Marini Romana , Pedicelli Stefania , Deodati Annalisa , Galassi Stefania , Cappa Marco

Background: Pituicytoma is a very low-grade glioma that originate in the neurohypophisis and infundibulum.Objective and hypotheses: Describe diagnosis and treatment of associated pituicytoma and ACTH-secreting adenoma in a 6-year-old girl.Method: Case report and literature review.Results: We report the case of a 6-year-old presented with growth failure and associated weight gain, premature pubarche, and hyper...

hrp0084p1-108 | Perinatal | ESPE2015

Liver ER Stress and Intrauterine Growth Retardation in Rats

Deodati Annalisa , Argemi Josepmaria , Puglianiello Antonella , Germani Daniela , Ferrero Roberto , Aragon Tomas , Cianfarani Stefano

Background: Endoplasmic reticulum (ER) is the site where proteins are folded. Perturbation of ER homeostasis activates a set of ER-to-nucleus signaling reactions known as the unfolded protein response (UPR). Metabolic stress causes UPR activation which contributes to the development of insulin resistance and metabolic syndrome. As UPR can be activated by nutrient and oxygen starvation, we postulated that intrauterine growth restriction may trigger UPR signaling and thereby con...

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...