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57th Annual ESPE

Athens, Greece
27 Sep 2018 - 29 Sep 2018

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ESPE 2018 57th European Society for Paediatric Endocrinology Annual Meeting 27-29 September 2018 Athens, Greece

Poster Presentations

Fetal, Neonatal Endocrinology and Metabolism P3

hrp0089p3-p170 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

A Rare Case of Congenital Hyperinsulinemina with ABCC8 Missense Mutation Presenting with Focal Pancreatic Lesion

Sethi Aashish , Ramachandran Smita , Kochar Inderpal

Introduction: Congenital Hyperinsulinemic hypolglycemia (CHI) is a rare genetic disorder resulting severe hypoglycaemia secondary to excessive insulin release from the pancreatic cells. Its early diagnosis is imperative to prevent irreversible brain damage by hypoglycemia. Genetic testing and 18-F-DOPA scan help to confirm the diagnosis.Case: A 2.7 kg male baby was born at term to non-consanguineous parents by normal vaginal delivery. On day 4 of life th...

hrp0089p3-p171 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Comparison of Metabolic Parameters of Children’s Blood Depending on the Level of Mother’s Glycemia During Pregnancy

Masel Alisa , Kaprior Ekaterina , Polyanskaya Alexandra , Nikitina Irina

Introduction: The impact of gestational diabetes mellitus (GDM) on fetal development and the future health of the child need further studying. In accordance to the criteria by Hyperglycemia and Adverse Pregnancy Outcome Study, GDM can lead to a number of negative consequences, including the impact on disturbance of metabolic parameters.Aim: To compare the impact of glycemia during pregnancy on the children’s metabolic status.M...

hrp0089p3-p172 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Forty patients with persistent, non-focal congenital hyperinsulinism: Urgent need for new treatment modalities

Rasmussen Amalie Greve , Melikian Maria , Globa Evgenia , Detlefsen Sonke , Rasmussen Lars , Petersen Henrik , Brusgaard Klaus , Rasmussen Annett Helleskov , Christesen Henrik

Background: Congenital hyperinsulinism (CHI) is a rare, heterogeneous disease with a focal, diffuse, or atypical histological form and a high risk of cerebral injury due to severe hypoglycemia.Methods: We retrospectively evaluated the treatment and outcome of a cohort of patients with non-focal, persistent CHI admitted to the International Hyperinsulinism Center, Denmark from January 2000 to May 2017. Data were extracted from hospital files.<p class=...

hrp0089p3-p173 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Outcome of Eight Patients with Congenital Hyperinsulinism (CHI) Studied with 18[F]Dihydroxyphenyl-Alanine Positron Emission Tomography Imaging (18F-DOPA-PET-CT) in Argentina

Tangari Saredo Ana , Flanagan Sarah , Alonso Guillermo , Caceres Juan , Troiano Marina , Bignon Horacio , Bastianello Maria , Graciela Del Rey , Ignacio Bergada

Congenital hyperinsulinism (CHI) results from inappropriate insulin secretion most commonly caused by mutations in the ABCC8 and KCNJ11 genes which encode for the pancreatic β-cells-ATP-sensitive-potassium channel (KATP) subunits SUR1 and KIR6.2 respectively. Diagnosis of CHI is based on the presence of detectable plasma insulin during hypoglycemia, suppressed β-hydroxybutyrate and NEFA. Diazoxide is the major treatment for CHI, sirolimus had also b...

hrp0089p3-p174 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Congenital Hyperinsulinism and Maple Syrup Urine Disease a Challenging Combination

Shidhani Azza Al , Murshedi Fathiya Al , Yaarubi Saif Al , Thihli Khalid Al , Ullah Irfan

Background: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy, characterized by unregulated insulin secretion. CHI is a challenging disease to diagnose and manage. Moreover, complicating the course of the disease with another metabolic disease like Maple syrup urine disease (MSUD) adds more challenges to the already complex management.Case: We report a term male neonate with uneventful birth ...

hrp0089p3-p175 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Neonatal Diabetes Mellitus in Vietnam National Children Hospital

Ngoc Can Thi Bich , Dung Vu Chi , Thao Bui Phuong , Khanh Nguyen Ngoc , Mai Do Thi Thanh , Ellard Sian , Jayne Houghton , Flanagan Sarah , Mackay Deborah , Hoan Nguyen Thi

Introduction: Neonatal diabetes mellitus (NDM) is a rare (1:300,000–400,000 newborns) but potentially devastating metabolic disorder characterized by hyperglycemia combined with low levels of insulin. Two main groups have been recognized, transient NDM (TNDM) and permanent NDM (PNDM).Objective: To describle clinical features and laboratory manifestations of patient with NDM and evaluate outcome of management.Subject and method...

hrp0089p3-p176 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Axillary Temperature Relation to Blood Serum Insulin-like Growth Factor-I in the Not-life-Threatened Newborn: Relevance of Preterm Birth

Terzi Cesare , Blum Werner F. , Magnani Cristiana , Tridenti Gabriele , Cerioli Andrea , Riani Marco , Garavelli Lidia , Bernasconi Sergio , Angelis Gian Luigi De , Virdis Raffaele , Banchini Giacomo

Introduction: Preterm delivery may comport blood serum Insulin-like Growth Factor-I (IG1) decrements and lower body temperature during the first days of postnatal life of the human newborn (NWB). We evaluated the role of preterm delivery in associations between axillary temperature (TEMP) and IG1 in NWBs without life-threatening disease.Methods: NWBs with any among total parenteral nutrition, blood transfusion, therapeutic hypothermia, life-threatening d...

hrp0089p3-p177 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Birth Estimated Brain Weight Relation to Ratios between Insulin-like Growth Factor-II and Insulin-like Growth Factor Binding Protein-3 in the Not-life-threatened Newborn: Relevance

Terzi Cesare , Virdis Raffaele , Magnani Cristiana , Tridenti Gabriele , Cerioli Andrea , Riani Marco , Chesi Elena , Bernasconi Sergio , Angelis Gian Luigi De , Blum Werner F. , Banchini Giacomo

Introduction: Body temperature determinants include head-brain thermal homeostatic mechanisms and, in the human newborn (NWB), birth gestational age (GA). Estimated birth brain weight (BRW) ratio to birth body weight (BW)(BBR) resulted associated with GA and blood serum Insulin-like Growth Factor (IGF)-II(IG2) ratio to blood serum IGF Binding Protein-3 (IB3)(IG2 through chronologically-corresponding IB3, IG2/IB3R) in our previous NWB observations. Here we evaluate BRW, BW, BBR...

hrp0089p3-p178 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Congenital Hyperinsulinism in Children with Beckwith-Wiedemann Syndrome

Gubaeva Diliara , Melikyan Maria , Didi Mohammed , Senniappan Senthil

Introduction: Beckwith-Wiedemann syndrome (BWS) is a multisystem imprinting disorder. Approximately 50% of patients with BWS develop congenital hyperinsulinism (CHI). In this report, we describe the main clinical features in a group of patients with BWS and CHI.Study: Clinical and laboratory data was collected from all patients with BWS under the care of endocrine units at Alder Hey Children’s Hospital (Liverpool, UK) and Endocrine Research Centre (...

hrp0089p3-p179 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Comparison of the Phenylketonuria Phenotypes in Qazvin Province Before and After Neonatal Screening Until 2017

Saffari Fatemeh , Taherkhani Camelia , Esmailzadehha Neda , Homaei Ali

Background: Phenylketonuria (PKU) is an autosomal recessive disorder that primarily affects the brain. Patients are at risk for intellectual disability, developmental disorder, hyperactivity, seizure, autism, and so on. The aim of this study was to compare the PKU phenotypes in Qazvin province, Iran before and after neonatal screening until 2017.Methods: All children with PKU (61 patients) in Qazvin province, Iran who had been diagnosed before a...

hrp0089p3-p180 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

From Hypoglycemia to Hyperglycemia

Yau Ho-chung

A full-term baby girl born with birth weight of 2.75 kg (10th–25th percentile) had an uneventful perinatal course and no history of gestational diabetes. She was admitted to nursery on day 4 for poor feeding. Physical examination was unremarkable. Blood glucose was 0.6 mmol/l upon admission and urine ketone was negative. Electrolytes and blood gas were normal. Glucose infusion rate of 11 mg/kg per min was required to maintain euglycemia. Critical samples revealed insulin ...

hrp0089p3-p181 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Population Screening of Hypophosphatasia. A Metabolopathy to Consider. National Multicentric Study

Aldamiz-Echevarria Koldo , Diez-Lopez Ignacio , Arranz Leonor , Garcia-Barcina MJ

Hypophosphatasia is a congenital disease, characterized by a defect in bone and dental mineralization, secondary to a deficiency in the biosynthesis of the non-specific tissue isoenzyme of bone, liver and kidney alkaline phosphatase (TNSALP). Clinical phenotype varies with age and its clinical expression is sometimes very latent. There is a small but significant number of pediatric patients NOT diagnosed with hypophosphatasia. The values of low phosphatases may go unnoticed in...

hrp0089p3-p182 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Dumping Syndrome in a Neonate with Esophagical Atresia Surgery

Gonzalez Angelica , Jaramillo Carolina , Espejo Jennyfer Monroy

Introduction: Dumping Syndrome (DS) has been recognized as a major complication of Nissen fundoplication in young children. Althougth other causes have been recognized. We describe a children with esophageal atresia who presented with late DS caused by a surgical complication, Dumping and Horner syndrome were diagnosticated after his surgery.Case description: A male newborn with prenatal diagnosis of right Aortic Arch was born by vaginal delivery, radiol...

hrp0089p3-p183 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Diagnosis and Treatment of Persistent Hyperkalemia in Newborn Twins – Rare Case Report of Gordon Syndrome

Zhang Jun , Ma Huamei , Li Yanhong , Guo Song , Du Minlian , Yu Muxue , Li Xiaoyu

Objectives: To summarize the diagnosis and treatment course of hyperkalemia in twins, review the diagnosis approach of hyperkalemia in neonate and guide clinical practice.Methods: The clinical manifestation, laboratory examination, the course of diagnosis and treatment of the two cases were summarized.Results: A pair of twin girls, 38 days after birth, came to our department because of ‘Hyperkalemia more than one month’. ...

hrp0089p3-p184 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Mutation in UCP2 Gene: A Rare Cause of Hyperinsulinemic Hypoglycaemia Syndrome in a Small-for-Gestational Age Newborn

Clemente Maria , Yesquen Pamela , Campos Ariadna , Mogas Eduard , Fernandez Monica , Yeste Diego

Hyperinsulinism is a common cause of severe and persistent hypoglycaemia during the neonatal period. Eleven genes have been identified that lead to unregulated insulin secretion and hyperinsulinemic hypoglycaemia (HH). Inactivating mutations in UCP2 gene have been described in a very small number of patients with HH. UCP2 protein is an inner mitochondrial carrier protein and its loss of function causes enhanced glucose oxidation and increased intracellular ATP synthes...

hrp0089p3-p185 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Hyperinsulinemic Hypoglycaemia Syndrome in Small-for-Gestational Age Newborns: Clinical Characteristics and Genetic Study

Yesquen Pamela , Clemente Maria , Campos Ariadna , Fernandez Monica , Castillo Felix , Yeste Diego

Hyperinsulinemic hypoglycaemia (HH) is a common cause of severe and persistent hypoglycaemia during the neonatal period. Risk factors for neonatal transient hyperinsulinism are small-for-gestational age (SGA), perinatal asphyxia and maternal diabetes mellitus. This state of hyperinsulinism in SGA newborns could persist from weeks to years, resulting in an important comorbidity; its pathogenesis remains unknown.Objective: To describe the clinical-genetic ...

hrp0089p3-p186 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Pediatric Insulinoma: A Case Report

Dissaneevate Pathikan , Patarapinyokul Sakda , Khaimook Araya

Aims: To report case presenting with pediatric insulinoma.Methods: A case with pediatric insulinoma was reviewed including demographic and clinical data.Results: A 11-year-old boy was referred from private hospital due to hypoglycemia. He has a 1-month history of increased hunger, increased 10 kg of weight, confusion and fainting after fasting 10 h. On examination, height was 50th centile, weight was 90th centile, there were no cus...

hrp0089p3-p187 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Mutations in Indian children with Neonatal Diabetes

Ramachandran Smita , Sethi Aashish , Kochar Inderpal

Objective: To evaluate the genetic mutations prevalent in Indian children with Neonatal diabetes.Methods: All infants, less than 6 months of age with hyperglycemia requiring insulin were included in the study and their genetic testing were done.Results: Ten infants with ND were included; there were three females and seven males. The age of presentation ranged from 4 weeks to 28 weeks of age. of all the children tested 5 children we...

hrp0089p3-p188 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Weight Outcome in Infants with Prolonged Hyperinsulinemic Hypoglycemia Treated with Diazoxide vs Those with Spontaneous Resolution

Chandran Suresh , Rajadurai Victor Samuel , Yi Chng Hui , Jinjie Lin , Lim Joyce , Peng Fabian Yap Kok

Background: In newborns, physiological transition of glucose metabolism is typically completed within 48–72 h of life, yet prolonged hyperinsulinemic hypoglycemia (HH) beyond 5d of life is not uncommonly encountered, especially in infants at-risk of hypoglycemia. Management includes intravenous dextrose while awaiting spontaneous resolution (SR) of HH or Diazoxide (DZX) therapy. Since DZX acts by suppressing insulin release, concerns arise whether weight gain in infancy w...

hrp0089p3-p189 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Neonatal Hyper- and Hypoglycaemia; Widening the Clinical Phenotype of Transient Neonatal Diabetes Mellitus due to 6q24 Methylation Defects

Taylor-Miller Tashunka , O'Connell Michele , Sabin Matthew

6q24 methylation defects are the most common cause of Transient Neonatal Diabetes Mellitus (TNDM). The clinical picture is one of impaired insulin secretion, small for gestational age and diabetes mellitus aged <6 months. This case illustrates the fluctuation between both hyper- and hypoglycaemia that can been seen in 6q24 methylation defects. A term, small for gestational age baby boy was noted to have hypoglycaemia (BSL 1.8 mmol/l) at 1.5 h of life which resolved with or...

hrp0089p3-p190 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Clinical and Molecular Genetic Characterization of Two Patients due to Mutations

Ding Yu , Li Niu , Chang Guoying , Li Juan , Yao Ruen , Shen Yiping , Wang Jian , Huang Xiaodong , Wang Xiumin

Background: The Phosphoglucomutase 1 (PGM1) enzyme plays a central role in glucose homeostasis by catalyzing the inter-conversion of glucose 1-phosphate and glucose 6-phosphate. Recently, PGM1 deficiency was recognized to cause the congenital disorders of glycosylation (CDGs). PGM1 deficiency is a rare, autosomal recessive inherited disease which can cause the extreme variability of clinical symptoms multi-organ dysfunction, including ketotic hypoglycemia, dilated cardiomyopat...

hrp0089p3-p191 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Transient Central Hypothyroidism due to Maternal Graves’ Disease

Izumita Yukie , Abe Yuki , Tsukano Shinya

Context: Maternal Graves’ disease (GD) may lead to not only thyrotoxicosis but also hypothyroidism in neonates. We describe a case of transient central hypothyroidism (CH) due to undiagnosed maternal GD.Case presentation: A 4-month old Japanese girl visited our hospital for the treatment of hypothyroidism. She was born after 37-week gestation, weighting 2320g. She developed hypoglycemia and admitted to the prior hospital. She exhibited hypothyroxine...