hrp0084p3-1254 | Programming & Misc. | ESPE2015

Untargeted Plasma Metabolomics in Prepubertal ICSI and Naturally Conceived Children Unravels Gender: Dimorphic Metabolic Trajectories After ICSI

Gkourogianni Alexandra , Telonis Aristeidis G , Kosteria Ioanna , Margeli Alexandra , Mantzou Emilia , Konsta Maria , Loutradis Dimitrios , Mastorakos George , Papassotiriou Ioannis , Kanaka-Gantenbein Christina , Klapa MariaI , Chrousos George P

Background: ICSI is an assisted reproduction technique (ART) mainly used to overcome male infertility. Nowadays, ICSI is employed frequently due to its high success rate, despite it being highly invasive (i.e. epigenetic risk). Recent studies in ART offspring show a higher incidence of cardio-metabolic risk than in naturally-conceived (NC) controls. Thus, in our prior untargeted metabolomic study between ICSI and NC prepubertal girls, we demonstrated insulin resistance in the ...

hrp0095fc8.2 | Diabetes and Insulin | ESPE2022

Detection of anti-islet antibodies in capillary blood by the antibody detection by agglutination-PCR (ADAP) technology is sensitive and suitable for general population screening programs

Oron Tal , de Jesus Cortez Felipe , Shtaif Biana , Robinson Peter V. , Yackobovitch-Gavan Michal , Seftel David , Phillip Moshe , Tsai Cheng-ting , Gat-Yablonsky Galia

Background: Detection of type 1 diabetes (T1D) at the pre-clinical stage is possible by detecting islet autoantibodies (IA) years before the appearance of symptomatic diabetes. An efficient screening program based on these antibodies will identify children at risk of developing diabetes during childhood. The antibody detection Israeli research (ADIR) is a general population screening program in Israel searching for children with multiple IA who are at risk of ...

hrp0095p1-455 | Diabetes and Insulin | ESPE2022

An Adolescent with HNF1B Deletion. A Case Report

Vourdoumpa Aikaterini , Koutaki Diamanto , Vasilakis Ioannis-Anargyros , Bacopoulou Ioanna , Sertedaki Amalia , Charmandari Evangelia , Paltoglou George

Introduction: Mutations in hepatocyte nuclear factor 1Β (HNF1B) gene (chromosome 17q12), lead to monogenic diabetes (HNF1B-MODY or MODY5, OMIM 137920) accompanied by multisystem disorders. HNF1B gene encodes HNF1B protein, a member of the homeodomain-containing superfamily of transcription factors, expressed early in embryogenesis, contributing significantly to organogenesis and the function of many systems (kidneys, liver, panc...

hrp0095p1-271 | Fat, Metabolism and Obesity | ESPE2022

Serum Osteopontin, NGAL and Sclerostin concentrations in children and adolescents with overweight and obesity

Karampatsou Sofia-Iliada , Paltoglou George , Genitsaridi Sofia-Maria , Kassari Penio , Charmandari Evangelia

Background: Obesity in childhood and adolescence represents a major health problem and is associated with significant morbidity and mortality in adult life. Osteopontin, NGAL and Sclerostin are bone biomarkers, however, little is known about their role in obesity.Objective and Hypothesis: The aim of our study was to determine the concentrations of Osteopontin, NGAL and Sclerostin in children and adolescents with overweig...

hrp0095p1-481 | Fat, Metabolism and Obesity | ESPE2022

Non-traditional cardiometabolic risk factors in obese children and adolescents with Metabolic Syndrome

Tragomalou Athanasia , Paltoglou George , Tsitsiloni Ourania , Loukopoulou Sofia , Binou Maria , Ramouzi Eleni , Kassari Penio , Charmandari Evangelia

Background: The prevalence of obesity in childhood has increased dramatically during the last decades. Dyslipidemia, hypertension and insulin resistance – all components of the metabolic syndrome (MS) and well-known cardiometabolic risk factors – predispose to the development of inflammation and premature atherosclerotic cardiovascular disease in childhood.Aim: To determine “non- traditional” card...

hrp0095p2-107 | Fat, Metabolism and Obesity | ESPE2022

An Obese Patient with A Pathogenic PTEN Mutation. A Case Report

Vourdoumpa Aikaterini , Koutaki Diamanto , Paltoglou George , Fryssira Elena , Charmandari Evangelia , Bacopoulou Ioanna

Introduction: Germline mutations in Phosphatase and tensin homolog (PTEN) gene (chromosome 10q23) lead to PTEN Hamartoma Tumor Syndrome (PHTS), which includes Cowden syndrome. PTEN encodes a tumor suppressor protein that is a negative regulator of PI3K – Akt signaling pathway, taking part in multiple biological processes, including cellular cycle and regulation of metabolism.Materials and Methods:...

hrp0095p2-122 | Fat, Metabolism and Obesity | ESPE2022

Pediatric Endocrine evaluation of Marfan syndrome: A case report

Koutaki Diamanto , Vourdoumpa Aikaterini , Bacopoulou Ioanna , Fryssira Helen , Charmandari Evangelia , Paltoglou George

Background: Endocrine disorders associated with tall stature in childhood are frequently evaluated by Pediatric Endocrinologists. The most common non-endocrine genetic cause of tall stature, Marfan syndrome, is a rare autosomal dominant genetic condition of the connective tissue, which presents with specific dysmorphic features, including thin physique, long extremities and normal growth rate. Little is known regarding the association of Marfan syndrome with o...

hrp0092fc1.3 | Diabetes and Insulin Session 1 | ESPE2019

Next Generation Sequencing in Greek MODY Patients Increases Diagnostic Accuracy and Reveals a High Percentage of MODY12 Cases

Tatsi Elizabeth-Barbara , Sertedaki Amalia , Skorilas Andreas , Chrousos George , Kanaka-Gantenbein Christina

Introduction: Maturity Onset Diabetes of the Young (MODY) constitutes a genetically and clinically heterogeneous type of Monogenic Diabetes (MD), characterized by early onset of hyperglycemia, autosomal dominant inheritance and defect in β-cell insulin secretion. To date, 14 different MODY subtypes have been reported, each one with a distinct genetic etiology.Materials and Methods: We designed a NGS TGP of seven ...

hrp0092p1-16 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Normocalcemic Hyperparathyroidism in Children

Papadimitriou Dimitrios T. , Dermitzaki Eleni , Kleanthous Kleanthis , Papadimitriou Anastasios , Mastorakos George

Normocalcemic primary hyperparathyroidism (NPHPT) has been recognized as a variant of primary hyperparathyroidism (PHPT) and it is characterized by elevated PTH with persistently normal concentrations of albumin-adjusted total and ionized calcium. It is related to increased risk in development of osteopenia/osteoporosis as well of parathyroid adenoma and hypercalcemia/hypercalciuria. In order to identify biochemical disorders of PTH in normocalcemic children we performed in al...

hrp0092p2-79 | Diabetes and Insulin | ESPE2019

Clinical Profile and Follow-up Analysis of Neonatal Diabetes Mellitus- Single Centre Experience

Korula Sophy , George Paul Praveen , Chapla Aaron , Mathai Sarah , Simon Anna

Aim: To study the clinical profile of Neonatal Diabetes Mellitus (NDM) at our centreObjectives: 1. To study follow-up data on growth, glycemic control2. To review genetic analysisIntroduction: NDM is rare and occurs at a frequency of 1:1,00,000. There is scarce literature on follow up of these patients although genetic data is well established (1). Developing...