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 ...

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...

hrp0092p2-181 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

A Novel Case Of Paternal Isodisomy for Chromosome 7 Associated with Overgrowth

Pagliazzi Angelica , Artuso Rosangela , Guarducci Silvia , Pantaleo Marilena , Lucherini Barbara , Sani Ilaria , Landini Samuela , Traficante Giovanna , Provenzano Aldesia , La Barbera Andrea , Vergani Debora , Tiberi Lucia , Formicola Daniela , Mancano Giorgia , Bosi Emanuele , Peluso Francesca , Forzano Giulia , Contrò Gianluca , Di Giovanni Fabiana , Stagi Stefano , Giglio Sabrina

We report a pediatric patient with an undiagnosed and complex medical manifestation who was shown to have paternal isodisomy at chromosome 7. Our case is a female patient presented for increasing overweight, parotid hemangioma and gastroesophageal reflux with laryngomalacia. She was born at 35+4 weeks of gestation and her birth weight, length and occipitofrontal circumference (OFC) were 2500 g, 49 cm and 33 cm, respectively. At the time of our visit she was 16 months old, ...

hrp0094p1-119 | Fat, Metabolism and Obesity B | ESPE2021

Diagnostic precision of the Tri-Ponderal Mass Index (kg/m3) to identify the metabolic risk phenotype in obese children and adolescents.

Arciniegas Larry , Tomasini Rosangela , Vega Elizabeth , Fabregas Ana , Clemente Maria , Yeste Diego ,

Introduction: The metabolically healthy obese phenotype (MHOF) defines obese patients who have preserved insulin sensitivity and who do not have metabolic complications: lower risk of cardiovascular disease and type 2 diabetes in adulthood. Recent studies indicate that TMI (kg/m3) estimates the percentage of body fat more accurately than the BMI and it has been proposed to substitute the use of the BMI z-score values by those of the TMI. TMI values ...

hrp0094p2-186 | Fat, metabolism and obesity | ESPE2021

Diagnostic accuracy of Tri-Ponderal mass index (kg/m3) for identifying glucose intolerance in obese children and adolescents.

Arciniegas Larry , Mogas Eduard , Tomasini Rosangela , Fabregas Ana , Clemente Maria , Yeste Diego ,

Introduction: The identification of obese patients with increased susceptibility and risk for glucose intolerance and type 2 diabetes requires an oral glucose tolerance test (OGTT). Reference values for Body mass index (BMI) and Tri-Ponderal mass index (TMI) according to age and sex of healthy children in Spain without malnutrition or obesity have recently been published (*). TMI values remain very uniform in both boys and girls from the age of 8 to 18 years, ...

hrp0086p1-p227 | Diabetes P1 | ESPE2016

Rising of Type 1 Diabetes Mellitus Incidence in Chilean Children Between 2006 and 2014

Garfias Carolina , Garcia Hernan , Ugarte Francisca , Martin Yonathan San , Bortzuski Arturo , Cerda Jaime

Background: T1DM incidence in children varies across regions and countries, showing a continue rise Worldwide.Objective and hypotheses: To determine the incidence of T1D in Chilean children under 20 years between 2006 and 2012.Method: We reviewed mandatory notifications of T1D (GES Program) in Chile’s public health system in population younger than 20 years between 2006 and 2014. Data were obtained from the Department of Infor...

hrp0086p1-p699 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Role of PTPN22 C1858T Gene Polymorphism in Pediatric Polyautoimmunity

Seiltgens Cristian , Cristi Francisca , Iruretagoyena Mirentxu , Perez-Mateluna Guillermo , Talesnik Eduardo , Hogdson Isabel , Martinez-Aguayo Alejandro , Borzutzky Arturo

Background: Children with more than one AID (pediatric polyautoimmunity) may have a stronger genetic component than children with a single AID. PTPN22 C1858T SNP has been associated with multiple different AIDs in adults and children.Objective and hypotheses: Evaluate the association of PTPN22 C1858T gene polymorphism with pediatric polyautoimmunity.Method: A cross-sectional study was performed in subjects with an AID of p...

hrp0084p3-834 | Fat | ESPE2015

Liver Steatosis in Obese Children Courses with Enhanced Insulin Resistance and Dyslipidaemia, Which are Influenced by Gender, Puberty, Race and Body Fat Distribution

Martos-Moreno Gabriel A , Martinez-Villanueva Julian , Gonzalez-Leal Rocio , Sirvent Sara , Minguez Arturo , Martinez Guillermo , Hawkins Federico G , Argente Jesus

Background: Liver steatosis (LS) is diagnosed in obesity at very early ages, not exclusively related to overweight severity.Objective and hypotheses: To investigate the features of patients diagnosed with obesity associated LS (ultrasonography).Method: We retrospectively studied 88 obese (BMI>+2 SDS) children with LS (LS-OB) and 88 age, gender, race and puberty matched obese children without LS (no-LS-OB). BMI-SDS, body composi...