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 ...

hrp0092p1-194 | Fat, Metabolism and Obesity (1) | ESPE2019

Whole Exome Sequencing to Identify Causative Variants in a Female Patient with Early Onset Obesity and Intellectual Disability: A New Case of Borjeson-Forsman-Lehmann syndrome

Pagliazzi Angelica , Artuso Rosangela , Traficante Giovanna , Giunti Laura , Bosi Emanuele , Provenzano Aldesia , La Barbera Andrea , Guarducci Silvia , Palazzo Viviana , Pantaleo Marilena , Lucherini Barbara , Sani Ilaria , Formicola Daniela , Reho Paolo , Bargiacchi Sara , Dosa Laura , Peluso Francesca , Forzano Giulia , Contrò Gianluca , Di Giovanni Fabiana , Stagi Stefano , Giglio Sabrina

The epidemic spread of obesity in children has triggered the commitment of scientific research, which has allowed us to understand its genetic basis; the different forms of genetic obesity share common clinical aspects, making it difficult to achieve a molecular diagnosis based only on our clinical suspicion. We report a female patient presented with neonatal hypotonia, hyperphagia and early onset excessive weight gain, strabismus and high hypermetropia. Regarding her neurodev...

hrp0092p1-336 | Fat, Metabolism and Obesity (2) | ESPE2019

Genomic Knowledge as the Powerful Tool to Understand the Obesity

Artuso Rosangela , Pagliazzi Angelica , Palazzo Viviana , Giunti Laura , Landini Samuela , Provenzano Aldesia , La Barbera Andrea , Guarducci Silvia , Pantaleo Marilena , Lucherini Barbara , Sani Ilaria , Vergani Debora , Tiberi Lucia , Formicola Daniela , Bargiacchi Sara , Reho Paolo , Bosi Emanuele , Peluso Francesca , Dosa Laura , Traficante Giovanna , Stagi Stefano , Giglio Sabrina

Obesity, with its complications, emerges as a major contributor to the global health burden becoming pandemic. It's an extremely complex disorder resulting of interaction of biological, social and behavioural factors that cause increase in food intake and reduction in energy expenditure. Although few monogenic forms and indeed several susceptibility loci have been described, the molecular basis underlying early onset obesity remain largely unknown. GWAS revealed consistent...

hrp0092fc5.2 | Thyroid | ESPE2019

Lower Proportion of CD19+IL-10+ and CD19+CD24hiCD27+ IL-10+, but not CD1d+CD5+CD19+CD24+CD27+ IL-10+ B Cells in Children with Autoimmune Thyroid Diseases

Stozek Karolina , Grubczak Kamil , Marolda Viviana , Eljaszewicz Andrzej , Moniuszko Marcin , Bossowski Artur

Introduction: Hashimoto's thyroiditis (HT) and Graves' disease (GD) become increasingly common in children's population. Pathogenesis of autoimmune thyroid diseases (AITD) bases on coexistence of genetic predisposition and environmental triggers which finally drive to breakdown of immune tolerance. Many mechanisms in human body moderate process of inflammation. While some of them answer for up-regulation, some agents like B regulatory lymphocytes (...

hrp0092p1-8 | Adrenals and HPA Axis | ESPE2019

Follow-up and Prevalence of Precocious Puberty in Children with Classical Congenital Adrenal Hyperplasia diagnosed by Neonatal Screening

Gonzalez Veronica , Reinoso Andrea , Vitale Laura , Morin Analia , Fasano Victoria , Tournier Andrea , Balbi Viviana

Introduction: In children with classical congenital adrenal hyperplasia(CCAH) linear growth allows monitoring metabolic control. Precocious puberty could compromise their growth. There are few studies in patients with CCAH diagnosed by neonatal screening(NS) about this subject.Aims: To analyze linear growth and precocious puberty in children with CCAH detected by NS.Method: Thirty-...

hrp0092p1-37 | Diabetes and Insulin | ESPE2019

Association of Maternal Depressive Symptoms with Worse Metabolic Control in Adolescents with Type 1 Diabetes

Von Borries Denise , Perez Viviana , Jorge Garcia Hernan , Rumie Karime , Astudillo Patricio , Garcia Hernan

Introduction: Metabolic control (MC) of patients with type 1 diabetes (DM1) is linked with complications in short and long term follow up. Adolescence is a critical period in the treatment of DM1, making it difficult to achieve good MC. Few studies, all conducted in the United States, have shown an association between mother´s depressive symptoms with poorer MC of their adolescent.Objective: To evaluate the associat...

hrp0092p1-417 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (2) | ESPE2019

Hypospadias: Clinical Approach, Surgical Technique and Outcome. Twenty Years' Experience of a Single Centre.

Lucaccioni Laura , Poluzzi Francesca , Durante Viviana , Predieri Barbara , Iughetti Lorenzo , Luca Ceccarelli Pier

Background: Hypospadias is one of the most common congenital abnormalities in male. Nowadays, hypospadias surgical repair has become highly demanding and deeply investigated with more than 300 corrective procedures. Its success is assessed by the "reoperation rate" that occurs short after the surgery within a brief follow-up (6-12 months). However, short-term outcomes may not reflect the long-term ones, as hypospadias repair may influence adolescence a...

hrp0092lb-26 | Late Breaking Posters | ESPE2019

Dramatic Clinical Response to Lenvatinib in One Pediatric Patient with Advanced Metastatic Papillary Thyroid Carcinoma

Dujovne Noelia , Gazek Natalia , Pitoia Fabian , Ayarzabal Victor , Felipe Laura , Lopez Marti Jessica , Herzovich Viviana

Papillary thyroid cancer (PTC) is the most common thyroid tumor in childhood and adolescence. Most of these patients are referred with locally advanced and/or distant disease at the moment of diagnosis. Whenever is possible, these patients should be offered a total thyroidectomy and radioiodine remnant ablation. However, this approach is not always possible to perform, becoming these tumors as unresectable. These critical cases could benefit from the neoadjuvant treatment with...

hrp0082p1-d1-240 | Thyroid | ESPE2014

A Novel Mutation in the TITF1 Gene in a Child with Benign Hereditary Chorea

Patianna Viviana Dora , Predieri Barbara , Garavelli Livia , Fusco Carlo , Madeo Simona Filomena , Bruzzi Patrizia , Iughetti Lorenzo

Introduction: Benign hereditary chorea (BHC) is a rare, autosomal dominant disorder, described as a non-progressive chorea of early onset. BHC can present as single neurologic disorder (13%), brain and thyroid disease (30%) or ‘brain–lung–thyroid syndrome’ with congenital hypothyroidism and neonatal respiratory distress syndrome (50%).Case Report: 18 months old infant was admitted to the Endocrinology Outpatient Clinic with motor dela...

hrp0082p2-d2-434 | Growth Hormone (1) | ESPE2014

Metabolic Assessment in Children with GH Deficiency Before, During, and After Human GH Replacement Therapy

Predieri Barbara , Mazzoni Silvia , Paraluppi Valentina , Patianna Viviana , Lucaccioni Laura , Madeo Simona , Bruzzi Patrizia , Iughetti Lorenzo

Background: GH has several effects on lipid and glucose homeostasis. In adults GH deficiency (GHD) has been associated to increased mortality for cardiovascular disease (CVD). In childhood few studies have investigated the effect of GHD and recombinant human GH (rhGH) therapy on metabolic parameters that may increase the risk of CVD.Objective and hypotheses: To assess changes of lipid profile, insulin-resistance indexes, and CVD risk in children and adol...