hrp0086rfc6.7 | Syndromes: Mechanisms and Management | ESPE2016

Characteristics of Responders and Poor-responders to Increlex® Therapy – Data from Children Enrolled in the European Increlex® Growth Forum Database (EU-IGFD)

Bang Peter , Polak Michel , Woelfle Joachim , Perrot Valerie , Sert Caroline

Background: The post-authorization registry, EU-IGFD, was initiated in Dec-2008 to collect data in children with growth failure receiving Increlex® (Mecasermin [rDNA Origin] Injection).Objective and hypotheses: To report patient characteristics, safety and effectiveness data in poor-responders (i.e. with change in year 1 Height SDS <0.3).Method: European, multicentre, open-label, observational study; eCRF data collection.<...

hrp0084p3-693 | Diabetes | ESPE2015

Blood vs Urine Ketone Monitoring in a Pediatric Cohort of Patients with Type 1 Diabetes: a Crossover Study

Goffinet Line , Barrea Thierry , Vandooren Valerie , Lysy Philippe

Background: Diabetes ketoacidosis (DKA) is the most severe complication in type 1 diabetes (T1D) but patient education and ketone monitoring may help decrease its frequency. However, the influence on glucose homeostasis of systematic ketone monitoring and of the nature of monitoring (urine vs blood) is unclear.Objective and hypotheses: To determine whether the use of blood ketone monitoring, as compared to urine ketone testing, decreases the duration of ...

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...

hrp0086rfc12.3 | Neuroendocrinology | ESPE2016

Next Generation Sequencing and Precocious Puberty: A New Diagnostic Challenge to Identify the Molecular Basis of Complex Diseases

La Barbera Andrea , Provenzano Aldesia , Artuso Rosangela , Orlandini Valerio , Giglio Sabrina , Stagi Stefano

Background: Precocious puberty is defined as the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. This condition results from a constant and complex interplay between predisposing genes and environmental factors. To date, the molecular analysis are all focused on reproductive-endocrine disorders such as Kallmann syndrome and hypogonadotropic hypogonadism, while the genetic bases of pubertal timing are still unclear.<p ...

hrp0082p1-d1-112 | Fat Metabolism &amp; Obesity | ESPE2014

Mir-146a and -155 are Involved in FOXO1 Regulation and Non Alcoholic Fatty Liver Disease in Childhood Obesity

Montanini Luisa , Lazzeroni Pietro , Sartori Chiara , Nobili Valerio , Crafa Pellegrino , Bernasconi Sergio , Street Maria E

Background: Non alcoholic fatty liver disease (NAFLD) is the most common chronic liver disease in childhood, in obese subjects and associated with insulin resistance.FOXO1 is a key regulator in insulin signalling and in intracellular adipogenesis, and is implicated in liver steatosis. We have previously identified that a group of miRNAs are involved in its epigenetic regulation.Objective and hypotheses: We aimed to assess in liver tissue and in serum whe...

hrp0082p2-d2-383 | Fat Metabolism &amp; 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...

hrp0094p2-295 | Growth and syndromes (to include Turner syndrome) | ESPE2021

An Italian survey on GH stimulation tests and their adverse side effects.

Salvatoni Alessandro , Agosti Massimo , Aversa Tommaso , Azzolini Sara , Bozzola Mauro , Calcaterra Valeria , Cardinale Giuliana Marcella , Caruso Manuela , Cavarzere Paolo , Cherubini Valentino , Ciccone Sara , Dipasquale Laura , Driul Daniela , Faienza Maria Felicia , FORINO Concetta , Grandone Anna , Guzzetti Chiara , Iezzi Maria Laura , Iughetti Lorenzo , Loche Sandro , Maghnie Mohamad , Mameli Chiara , Mancioppi Valentina , Matarazzo Patrizia , Messini Beatrice , Parpagnoli Maria , Carolina Salerno Maria , Tornese Gianluca , Trettene Adolfo Andrea , Vannelli Silvia , Zucchini Stefano , Delvecchio Maurizio ,

Introduction: The diagnosis of GHD requires the coexistence of anamnestic, auxological and laboratory data. The latter are burdened by the poor accuracy and adverse effects of the stimulation tests. A recent european audit (Horm Res Paediatr 2019;92(3): 150-156) on GH diagnostic reported as preferred tests in Italy Insulin tolerance test (ITT), glucagon, clonidine, arginine and Arg-GHRH. We conducted a survey to explore which of them are most used in It...

hrp0086rfc9.3 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

Molecular Analysis of a Large Cohort of MODY Patients by Next Generation Sequencing

Artuso Rosangela , Orlandini Valerio , Palazzo Viviana , Giunti Laura , Landini Samuela , Provenzano Aldesia , La Barbera Andrea , Giglio Sabrina , Stagi Stefano

Background: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes that accounts for 2–5% of all cases but it is underestimated because it’s often misdiagnosed as T1D or T2D whose symptoms are often overlapping. It is a phenotypically and genetically heterogeneous disorder characterised by autosomal dominant inheritance, a young age of onset and pancreatic β-cell dysfunction.Objective and hypotheses: Actually in about ...

hrp0082p2-d3-344 | Diabetes (2) | ESPE2014

Lifestyle and Health Related Quality of Life in Adolescents with Diabetes Mellitus Type 1

Mozzillo Enza , Zito Eugenio , De Nitto Elena , Cerrato Carla , Nugnes Rosa , Fattorusso Valentina , Franzese Adriana , Valerio Giuliana

Background: Adolescence is a critical period of life, and even more if a chronic illness is present like type 1 diabetes mellitus (T1DM). The healthy lifestyle practice is one of the pillars of the T1DM treatment.Objective and hypotheses: To evaluate the association between lifestyle and health related quality of life (HRQoL) in adolescents with T1DM.Method: Lifestyle and HRQoL were evaluated in 69 T1DM adolescents (34 male, mean a...

hrp0082p2-d2-376 | Fat Metabolism &amp; Obesity (1) | ESPE2014

Non-Alcoholic Fatty Liver Disease in Children/Adolescent Affected by Prader–WIlli Syndrome

Fintini Danilo , Inzaghi Elena , Bocchini Sarah , Grugni Graziano , Colajacomo Mauro , Brufani Claudia , Cappa Marco , Nobili Valerio , Cianfarani Stefano , Crino Antonino

Background: Prader–Willi syndrome (PWS) has a relative hypoinsulinemia and a lower insulin resistance than non-PWS subjects. Mostly on the basis of such higher insulin sensitivity, PWS subjects have been hypothesized to be at lower risk of non-alcoholic fatty liver disease (NAFLD).Objective and hypotheses: In this cross-sectional study, we analyzed the presence and the severity of NAFLD in a group of PWS children compared to matched pairs.<p cla...