hrp0095p2-32 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

A novel pathogenic variant in PLS3 causing severe osteoporosis and vertebral fractures in an adolescent

García-Zarzuela Ana , Domínguez-Riscart Jesús , Paola Arellano-Ruiz , Carmen Rodríguez-Barrios , Silvia Modamio-Høybjør , Mª Lechuga-Sancho Alfonso

Introduction: Bone fragility or predisposition to fractures with low-impact energy is a rare but potentially limiting condition. Variations in PLS3 gene are a cause of monogenic osteoporosis due to the alteration of osteoclast and osteocyte function and bone mineralization. It is characterized by early-onset osteoporosis, peripheral fractures, vertebral compression fractures and thoracic kyphosis. Due to its X-linked inheritance, the phenotype is more severe i...

hrp0092p1-360 | GH and IGFs (2) | ESPE2019

Prevalence of Children Born Small for Gestational Age with Short Stature who Qualify for Growth Hormone Treatment: A Preliminary Population-Based Study

Tamaro Gianluca , Pizzul Mariagrazia , Gaeta Giuliana , Servello Raffaella , Trevisan Marina , Ada Materassi Paola Manera , Macaluso Anna , Valentini Denis , Pellegrin Maria Chiara , Tornese Gianluca

Background: In 2003 recombinant human growth hormone (rhGH) was approved by European Medicines Agency to treat short children born small for gestational age (SGA), but so far no study evaluated the prevalence of SGA children with short stature who qualify for rhGH treatment in Europe.Objectives: To investigate the prevalence of SGA and short stature in children born SGA and of SGA children who qualify for rhGH treatment ...

hrp0089p1-p025 | Bone, Growth Plate & Mineral Metabolism P1 | ESPE2018

Intrauterine Growth Restriction, Antenatal Steroids, Gestational Age and Breast Feeding Influence Bone Health in Prepubertal Children Born Preterm

Iorgi Natascia Di , Calcagno Annalisa , Diana Paola , Notarnicola Sara , Allegri Anna Maria Elsa , Napoli Flavia , Cangemi Giuliana , Calevo Mariagrazia , Ramenghi Luca , Maghnie Mohamad

Objectives: To assess the long-term impact of prematurity on bone and body composition by using Dual-energy X-ray absorptiometry (DXA).Methods: DXA scans were performed in 100 preterm (PT) (n=42F, n=58M, mean weeks’gestation 31.5±2.6; range 26−36) and 51 born at term (BT) healthy infants (n=28F, n=23M). DXA measures of total body and lumbar spine mineral density (TB/L1-L4 BMD, g/cm2 and Z...

hrp0086fc4.4 | Pathophysiology of Obesity | ESPE2016

The Role of Apoptotic Marker Apo-1/Fas in the Metabolism and Endothelial Function of Healthy Children

Maganna Maria , Katsa Maria Efthymia , Ioannidis Anastasios , Zyga Sofia , Tsironi Maria , Sachlas Athanasios , Routsi Kleopatra , Dolianiti Loukia , Rojas Gil Andrea Paola

Background: Apoptosis is a programmed sequence of events towards cell death. Blood vessels employ apoptosis for remodeling during development and to maintain homeostasis during adulthood. The atherosclerotic process begins in early childhood and is correlated with obesity and metabolic disorders.Objective and hypotheses: To investigate the correlation of apoptotic marker Apo-1/Fas with children’s biochemical and anthropometric characteristics.<p...

hrp0082p3-d3-756 | Diabetes (4) | ESPE2014

Haemolysis and Acute Pancreatitis During Diabetic Ketoacidosis Treatment in a 14-Year-Old Boy with Unknown Glucose-6-Phosphate Dehydrogenase Deficiency

Ortolani Federica , Tummolo Albina , Torelli Cataldo , Masciopinto Maristella , Fedele Stefania , Lanzillotto Maria Paola , Nicastro Francesco , Papadia Francesco , Vendemiale Marcella , Piccinno Elvira

Background: G6PD deficiency is conventionally affiliated with drug induced oxidative stress, but an association with diabetes mellitus is seldom reported. Hypertriglyceridemia from insulin deficiency can be the cause of severe pancreatitis complicating DKA in children.Case report: A 14-year-old Bulgarian boy, no significant past medical history, hospitalized in Pediatric Surgery Department for abdominal pain, hematemesis insorted during a cruise trip. Re...

hrp0082p3-d1-763 | Fat Metabolism &amp; Obesity | ESPE2014

Association of Lifestyle with Metabolic Syndrome in Children

Katsa Maria Efthymia , Zyga Sofia , Tsironi Maria , Ioannidis Anastasios , Sachlas Athanasios , Kolobos Petros , Magana Maria , Pistikou Anna Maria , Dimoliani Dafni Eleni Kougioumtzi , GIl Andrea Paola Rojas

Background: Metabolic syndrome (MetSyn) is defined as a group of disorders including diabetes mellitus, central obesity, dyslipidaemia, and hypertension.Aim: To investigate the role of lifestyle habits in correlation with MetSyn in children.Methods: In our research, 480 students, 6–12 years old, were participated living in Sparta–Greece. During 2011–2012, a specially designed questionnaire was used and anthropometric...

hrp0084fc14.5 | Puberty | ESPE2015

Polybrominated Diphenyl Ethers (PBDEs) and Timing of Puberty in Girls

Deodati Annalisa , Sallemi Alessia , Maranghi Francesca , Busani Luca , Cambiaso Paola , Mancini Francesca , Scire Giuseppe , Spadoni Gian Luigi , Marini Romana , Baldari Francesca , Tassinari Roberta , Cianfarani Stefano

Background: Polybrominated diphenyl ethers (PBDEs) are widely used as flame retardants and have shown endocrine disruption properties in experimental studies. Preliminary studies in animal models have suggested a link between exposure to PBDE and alterations of puberty and reproduction.Objective and hypotheses: To investigate the association between the exposure to PBDEs and alterations of puberty in girls, referred for idiopathic premature thelarche (IP...

hrp0084p2-374 | Fat | ESPE2015

Lifestyle Habits and Arterial Hypertension in Children and Adolescents

Daratsianou Maria , Ioannidis Anastasios , Zyga Sofia , Koutsovitis Paraskevas , Sachlas Athanasios , Xrona Maria , Batsikoura Maria , Katsa Maria Efthymia , Magana Maria , Andronikakis Eleftherios , Gil Andrea Paola Rojas

Background: Elevated blood pressure (BP) may occur from childhood, increasing the risk for hypertension in adulthood.Aim: To investigate the effect of anthropometric characteristics and lifestyle habits in children’s and adolescents’ BP.Methods: 949 children (<12 years old) from Lakonia, 178 teenagers (12–18 years old) from Athens and 372 from Kalamata, Greece, had participated during 2011–2014. A specially ...

hrp0084p3-847 | Fat | ESPE2015

Uric Acid and Triglycerides/HDL Ratio as a Predisposing Factor for Metabolic Syndrome in Children

Katsa Maria Efthymia , Ioannidis Anastasios , Zyga Sofia , Tsironi Maria , Koutsovitis Paraskevas , Sachlas Athanasios , Kolovos Petros , Magana Maria , Daratsianou Maria , Paola Andrea , Gil Rojas

Background: Uric acid and Triglycerides/HDL ratio are an important risk factor for cardiovascular diseases.Aim: To investigate how Triglycerides/HDL ratio and uric acid are correlated with children’s biochemical and anthropometric characteristics, depending on the predisposition for metabolic syndrome (MetSyn).Methods: 110 students, 6–12 years old, living in Sparta-Greece, participated in our research. Anthropometric and ...

hrp0084p3-854 | Fat | ESPE2015

Association of Sleep Habits and Risk Factors for Metabolic Disorders in Children

Magana Maria , Zyga Sofia , Ioannidis Anastasios , Sachlas Athanasios , Katsa Maria Efthymia , Pistikou Anna Maria , Dimoliani Dafni Eleni Kougioumtzi , Daratsianou Maria , Kolovos Petros , Gil Andrea Paola Rojas

Background: Sleep is a complex and essential biological process that is required on a daily basis for all humans, playing a vital role in the maintenance of the homeostasis in short and long term.Aims and objectives: To investigate the role of sleep hours in correlation with risk factors for metabolic disorders in a children population.Methods: The program was implemented in 949 children (5–12 years old) living in Sparta-Greec...