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, ...

hrp0084p3-770 | Diabetes | ESPE2015

Particularités de la prise en charge du diabète Type 1 chez des enfants dont la révélation est survenue avant l’âge de five ans

Wafaa Mazari , Khadidja Bouriche , Djawida Senouci , Yasmine Zerga , Snaa Chiali , Salih Bendeddouche

Introduction: Le diabète de type 1 est l’endocrinopathie la plus fréquente chez l’enfant. Son incidence est en nette progression dans le monde. L’enfant diabétique nécessite une hygiène de vie adaptée et le suivi par une équipe pluridisciplinaire composée de pédiatre spécialiste en diabétologie, psychologue, diététicien, infirmier spécialisé.Objectif: Determiner les...

hrp0094p2-208 | Fat, metabolism and obesity | ESPE2021

OSAS in childhood obesity is a more frequent and earlier complication than expected

Deiana Giuseppina , Maltoni Giulio , Zucchini Stefano , Gallucci Marcella , Levi della Vida Francesca , Barberi Carolina , Pession Andrea , Cassio Alessandra ,

Introduction: Childhood obesity is associated with several complications, involving many systems. The prevalence of respiratory problems, such as obstructive sleep apnea syndrome (OSAS), is higher in obese children and adolescents. In fact, OSAS affects 13–59% of obese children and the severity is strongly associated with weight excess. Although overnight pulse oximetry (PO) can be used for diagnosing OSAS, a complete night polysomnography (PSG), which re...

hrp0082s9.2 | Novel Insights into Pituitary Development and Function | ESPE2014

Sox2+ve cells in the adult murine pituitary are stem cells with tumour-inducing potential

Martinez-Barbera Juan Pedro , Andoniadou Cynthia

Background: Several lines of evidence suggest that the adult pituitary contains a population of tissue-specific stem cells capable of differentiating into hormone-producing cells. Previously, we have shown that Sox2+ve cells are able to self-renew and differentiate in vitro, suggesting that this population of undifferentiated cells may contain stem cells in vivo. When targeted with oncogenic mutations adult stem cells can become cancer stem cells, able to self-renew and give r...

hrp0094mte4 | Cystic Fibrosis-related diabetes | ESPE2021

Cystic Fibrosis-related diabetes

Kelly Andrea ,

Emerging in childhood and becoming increasingly prevalent to affect 40-50% of adults with cystic fibrosis (CF), CF-related diabetes (CFRD) is a common co-morbidity with the potential to negatively impact nutritional status, pulmonary function, and survival. Stymying interventions to preserve beta-cell function, the mechanisms underlying the progressive insulin secretion defects responsible for CFRD are poorly delineated. This meet-the-professor session will use case-based pres...