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55th Annual ESPE

Paris, France
10 Sep 2016 - 12 Sep 2016

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Paris, France: 10-12 September 2016 Further information

Poster Presentations

Perinatal Endocrinology P1

hrp0086p1-p546 | Perinatal Endocrinology P1 | ESPE2016

Higher Risk of Low Birth Weight and Multiple Nutritional Deficiencies in Neonates from Mothers after Gastric Bypass: A Case Control Study

Gerard Maxime , Gascoin Geraldine , Salle Agnes , Frein Dorothee , Topart Philippe , Becouarn Guillaume , Schmitt Francoise , Briet Claire , Rouleau Stephanie , Sentilhes Loic , Coutant Regis

Background: Maternal bariatric surgery is associated with increased risk of small-for-gestational-age infants. Risk of nutritional deficiencies in neonates of mothers with prior gastric bypass (GBP) is unclear.Methods: This study compared the clinical and cord blood biological characteristics of 56 newborns of GBP mothers and 56 newborns of healthy mothers, in the Obstetrics Department of Angers University Hospital between 01/03/2008 and 31/10/2012. Afte...

hrp0086p1-p547 | Perinatal Endocrinology P1 | ESPE2016

Laboratory Findings of 302 Patients with Hyperinsulinemic Hypoglycemia at Hypoglycemia

Yorifuji Tohru , Sakakibara Azumi , Hashimoto Yukiko , Hosokawa Yuki , Kawakita Rie

Background: It is critically important to correctly diagnose hyperinsulinemic hypoglycemia (HH) to avoid neurological sequelae. However, the diagnosis is not always easy in the critical care setting since some patients present with atypical biochemical profiles.Objective and hypotheses: To delineate the range of biochemical data of HH patients at hypoglycemia to help establish a better diagnostic criteria.Method: Biochemical data (...

hrp0086p1-p548 | Perinatal Endocrinology P1 | ESPE2016

Recognition of a Sequence: More Growth before Birth, Longer Telomeres at Birth, More Lean Mass after Birth

de Zegher Francis , Diaz Marta , Lopez-Bermejo Abel , Ibanez Lourdes

Background: Telomere length at birth is a major determinant of telomere length in late adulthood. However, the prenatal setting of telomere length is poorly understood. Individuals born large from non-diabetic mothers are at lower risk for later-life disorders than those born small, a feature of their longer health span being a higher lean mass that provides more muscle strength and that is already present in infancy.Objective, hypotheses & methods: ...

hrp0086p1-p549 | Perinatal Endocrinology P1 | ESPE2016

Congenital Hyperinsulinism in Infancy: The Profiles of Insulin Secretory Granules are Markedly Different in Focal- and Diffuse β-Cells

Han Bing , Mohamed Zainab , Salomon-Estebanez Maria , Padidela Raja , Skae Mars , Craigie Ross , Rigby Lindsey , Cosgrove Karen , Banerjee Indi , Dunne Mark

Background: The mechanisms responsible for inappropriate insulin release from β-cells in congenital hyperinsulinism in infancy (CHI) have largely focused upon defects in KATP channels. Little is known about insulin biogenesis, the profiles of insulin in insulin-containing secretory granules or whether the impact of KATP channel defects is the same in diffuse- and focal disease.Objective and hypotheses: To define the ultrastruct...

hrp0086p1-p550 | Perinatal Endocrinology P1 | ESPE2016

Persistent Ketotic Hypoglycemia as an Atypical Presentation of Heterozygous HNF4A Mutation

von Oetting Julia , Mitchell John , Cloutier Daphne , Yau Daphne

Background: Heterozygous loss-of-function HNF4A mutations are known to lead to monogenic diabetes, and in infants to macrosomia and hyperinsulinemic hypoglycemia. We are reporting a patient with a heterozygous HNF4A mutation (c.997C>T p.ARG333Cys) presenting with persistent ketotic hypoglycemia.Case report: In a 38 weeks’ gestation infant (birth weight 4.1 kg, pregnancy complicated by insulin-requiring gestational diabetes), hy...

hrp0086p1-p551 | Perinatal Endocrinology P1 | ESPE2016

Enhanced Mitochondrial Densities Associate with the Pathobiology of β-Cells in Congenital Hyperinsulinism in Infancy

Han Bing , Salomon-Estebanez Maria , Padidela Raja , Skae Mars , Kadler Karl , Cosgrove Karen , Banerjee Indi , Dunne Mark

Background: Congenital hyperinsulinism in infancy (CHI) is associated with inappropriate insulin release from β-cells. This is causally linked to defects in the ion channel genes ABCC8 and KCNJ11 regulating insulin, but little is known about the metabolic support for sustained insulin exocytosis.Objective and hypotheses: We hypothesised that inappropriate insulin release in CHI would require sustained ATP generation by enhanced mit...

hrp0086p1-p552 | Perinatal Endocrinology P1 | ESPE2016

Congenital Adrenal Hyperplasia Newborn Screening: Improving the Effectiveness of the Neonatal 17OH-Progesterone and Serum Confirmatory Tests

Carvalho Daniel , Hayashi Giselle , Miranda Mirela , Valassi Helena , Alves Atecla , Rodrigues Andresa , Gomes Larissa , Madureira Guiomar , Mendonca Berenice , Bachega Tania

Background: Main concerns of Congenital Adrenal Hyperplasia Newborn Screening (CAH-NBS) are the high false-positive results (FPR) rate, low positive predictive value (PPV) and heterogeneity of confirmatory tests. Considering the CAH-NBS implementation in our country, our.Objectives: Objectives are to optimize the Neonatal 17OH-Progesterone (N17OHP) cutoffs and to evaluate the best serum confirmatory test.Methods: 473 983 newborns w...

hrp0086p1-p553 | Perinatal Endocrinology P1 | ESPE2016

Neonatal Diabetes in Ukraine

Globa Eugenia , Zelinska Nataliya , Temple Karen , Mackay Deborah , Hattersley Andrew , Flanagan Sarah , Ellard Sian

Background: We established a neonatal section of the Ukrainian Pediatric Diabetes Registry (UPDR) to identify cases of neonatal diabetes (ND).Objective and hypotheses: We investigated the genetic etiology and treatment of patients with ND.Method: According to the UPDR the number of children (0–17 y.o) with DM1 in 2015 was 8388 (a prevalence of one in 907), with DM2 – 36 (one in 211519) and with ND – 52 (one in 146436...

hrp0086p1-p554 | Perinatal Endocrinology P1 | ESPE2016

Clinical and Molecular Characteristics of Turkish Patients with Congenital Hyperinsulinism: A Single-Center Experience

Yildiz Melek , Akcay Teoman , Mutlu Neval , Akgun Abdurrahman , Onal Hasan , Ulucan Korkut , Ellard Sian , Flanagan Sarah E.

Background: Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia which needs a prompt diagnosis and relevant treatment to avoid brain damage. So far, mutations in 11 key genes are known to cause monogenic forms of HI.Objective and hypotheses: The aim of this study was to characterize the clinical and molecular features of Turkish congenital HI patients and analyze the genotype/phenotype correlations.M...

hrp0086p1-p555 | Perinatal Endocrinology P1 | ESPE2016

Islet of Langerhans in Congenital Hyperinsulinism in Infancy are Disrupted and with Decreased Expression of Collagen (IV) α1 Chain in Basement Membranes

Mal Walaa , Salomon-Estebanez Maria , Padidela Raja , Skae Mars , Craigie Ross , Rigby Lindsey , Cosgrove Karen , Banerjee Indi , Dunne Mark

Background: Congenital hyperinsulinism of infancy (CHI) is the most common cause of severe hypoglycaemia in children. Although CHI arises from mutations in KATP channels which lead to inappropriate insulin secretion, CHI it also is associated with marked changes in islet organization.Aims and objectives: Our aim was to investigate the structure and composition of the islet capsule in CHI and age-matched control tissue.Me...

hrp0086p1-p556 | Perinatal Endocrinology P1 | ESPE2016

Pancreatic Glucagon Secretion is Severely Impaired and Somatostatin Secretion Unchanged in Patients with Hyperinsulinaemic Hypoglycaemia

Shah Pratik , Rahman Sofia , Gilbert Clare , Morgan Kate , Hinchey Louise , Bech Paul , Amin Rakesh , Hussain Khalid

Background: Hyperinsulinaemic hypoglycaemia (HH) is a common cause of hypoglycaemia in children. Glucagon is an important counter-regulatory hormone and the role of somatostatin is not known in children with HH.Objective and hypotheses: To understand the roles of glucagon and somatostatin in children with HH.Method: Children admitted for management of HH in our hospital were included in the study. Plasma insulin, glucagon and somat...

hrp0086p1-p557 | Perinatal Endocrinology P1 | ESPE2016

Mutations in MODY Genes: About Four Cases of Congenital Hyperinsulinism

Berthelon Karen , Rouleau Stephanie , Dupuis Clementine , Bouhours Natacha , Donzeau Aurelie , Cessans Christine , Bellanne Christine , Coutant Regis

Background: Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in infants and children.Objective and hypotheses: Recently, mutations in genes usually involved in MODY 1 and 3 have been described in HI.Method: We present here six cases of hyperinsulinism associated with MODY1 (one case) and MODY3 (four cases) and one case of HI associated with MODY5 mutation.Results: Case 1...

hrp0086p1-p558 | Perinatal Endocrinology P1 | ESPE2016

Cerebral Outcome of Children with Congenital Hyperinsulism

Rasmussen Annett Helleskov , Melikian Maria , Portner Fani , Larsen Anna-marie , Scherderkina Inna , Globa E , Filipsen Karen , Brusgaard Klaus , Christesen Henrik

Background: Congenital hyperinsulinism (CHI) is a rare condition characterized by unregulated secretion of insulin from pancreatic islet β cells. The primary treatment goal is to obtain normoglycemia, since hypoglycemia in the neonatal period can have severe impact on cerebral development.Objective and hypotheses: To assess the cerebral function in children with CHI at follow up.Method: From an international cohort, 40 childre...

hrp0086p1-p559 | Perinatal Endocrinology P1 | ESPE2016

Recognition of the Fetal and Perinatal Features of the Prader-Willi Syndrome is Required to Avoid Delay in Diagnosis

Cizmecioglu Filiz Mine , Jones Jeremy Huw , Paterson Wendy Forsyth , Kherra Sakina , Kourime Mariam , Shaikh M Guftar , Donaldson Malcolm

Introduction: Prompt diagnosis in Prader-Willi syndrome (PWS) is important for counselling the family and thus pre-empt the hyperphagic phase of the condition.Objectives: To determine the key diagnostic features of PWS during the perinatal period and hence recommend strategies to ensure early diagnosis.Study design: Retrospective case note review with prospective questionnaire survey of birth details for the affected child and heal...

hrp0086p1-p560 | Perinatal Endocrinology P1 | ESPE2016

Congenital Hyperinsulinism Due to Compound Heterozygous Mutation in ABCC8 and KCNJ11 GENES: 20 Years Experience of A National Referral Centre

Walton-Betancourth Sandra , Shah Pratik , Flanagan Sarah , Ellard Sian , Guemes Maria , Gilbert Clare , Silvera Shavel , Hussain Khalid

Background: Congenital hyperinsulinism (CHI) is a condition caused by dysregulated insulin secretion. Compound heterozygous mutations in ABCC8 or KCNJ11 genes account for approximately 13% of CHI mutations and have traditionally been associated with diffuse disease unresponsive to diazoxide.Objective and hypotheses: To analyse the clinical presentation and response to treatment of patients diagnosed with CHI due to compound heterozygous...

hrp0086p1-p561 | Perinatal Endocrinology P1 | ESPE2016

A Case of Hyperinsulinemic Hypoglycemia, Associated with Insulin Autoimmune Syndrome (IAS) in 3.5 Year Old Girl

Kuznetsova Elena , Melikyan Mariya

Background: Insulin Autoimmune Syndrome (IAS) is a rare cause of hyperinsulinemic hypoglycaemia with only few descriptions in children in the literature. Drugs containing the sulfhydryl group, such as methimazol, are known to be a causative factor of this syndrome. Diazoxide and octreotide are usually ineffective in such patients.Objective: We aim to describe a rare case of IAS in a child, with a good response to a short course of glucocorticoid therapy....

hrp0086p1-p562 | Perinatal Endocrinology P1 | ESPE2016

Effectiveness of Calcium Channel Blocker Nifedipine in Children with Hyperinsulinaemic Hypoglycaemia Due to Genetically Proven Mutations in the ABCC8/KCNJ11/GCK Genes

Guemes Maria , Shah Pratik , Silvera Shavel , Morgan Kate , Gilbert Clare , Hinchey Louise , Hussain Khalid

Background: Several previous publications have documented the usefulness of Nifedipine for treating hyperinsulinaemic hypoglycaemia (HI). These reports include transient and persistent forms of HI, with and without known genetics, used in monotherapy or in combination with other drugs, and demonstrate various outcomes.Objective and hypotheses: To systematically trial Nifedipine in children with known HI mutations and diazoxide unresponsive, assessing gly...

hrp0086p1-p563 | Perinatal Endocrinology P1 | ESPE2016

Hyponatremia in Infants Under 100 Days Old: Frequently Overlooked and Multifactorial

Storey Caroline , Dauger Stephane , Baud Olivier , Deschenes Georges , Carel Jean-Claude , Martinerie Laetitia

Background: Hyponatremia is one of the most common electrolyte disorders in hospitalized children and early diagnosis and management are crucial to prevent morbidity and mortality. Because of the physiological resistance to aldosterone under 3 months of age, the mechanisms leading to hyponatremia are often misunderstood.Objective and hypotheses: To assess the prevalence of hyponatremia in hospitalized infants younger than 100 days and evaluate the mechan...

hrp0086p1-p564 | Perinatal Endocrinology P1 | ESPE2016

Long-Term Effects of Differences in Fetal Environment: Endocrine Influences on Cognitive Function and Personality in Teen Monozygotic Twins

Wimmer Lioba , Woelfle Joachim , Schulte Sandra , Bartmann Peter , Gohlke Bettina

Background: Low birth weight and unfavourable intrauterine conditions are associated with long-term effects on life.Objective and hypotheses: In a longitudinal study, we followed genetically identical twins with intra-twin birth-weight (bw) differences due to twin–twin transfusion syndrome from birth until after puberty. We propose that differences in birth weight lead to differences in hormone levels with effects on personality and cognitive functi...

hrp0086p1-p565 | Perinatal Endocrinology P1 | ESPE2016

Different Long-term Neurodevelopmental Outcomes in Very Preterm Versus Very-low-birth-weight Infants

Hollanders Jonneke J , Schaefer Nina , van der Pal Sylvia M , Rotteveel Joost , Finken Martijn J J

Background: Birth weight (BW) is often used as a proxy for gestational age (GA) by studies on preterm birth. Recent data indicate that the terms very-low-birth-weight (VLBW; BW <1500 g) and very preterm (VP; GA <32 weeks) birth are not equivalent with regard to perinatal outcomes and postnatal growth up until final height. It is unknown whether the differences between these terms could be extended to long-term neurodevelopmental outcomes.Objectiv...

hrp0086p1-p566 | Perinatal Endocrinology P1 | ESPE2016

Challenging Management of Costello Syndrome with Severe Congenital Hyperinsulinaemic Hypoglycaemia

Guemes Maria , Shah Pratik , Hinchey Louise , Gilbert Clare , Morgan Kate , Silvera Shavel , Hussain Khalid

Background: Costello syndrome may be associated with Hyperinsulinaemic Hypoglycaemia (HI), but this is usually a mild medically-responsive form.Objective and hypotheses: To describe the clinical characteristics, biochemical findings and challenging management of a case of Costello syndrome with severe HI.Method: Review of the patient’s medical records.Results: Male, born to non-consanguineous healthy par...

hrp0086p1-p567 | Perinatal Endocrinology P1 | ESPE2016

Risk Factors and Clinical Features of a Large Cohort of Patients with Transient Hyperinsulinemic Hypoglycaemia

Ozsu Elif , Reed John , Hussain Alsaffar , Patil Prashant , Giri Dinesh , Dharmaraj Poonam , Blair J O , Das Urmi , Senniappan Senthil , Didi Mohommad

Background: Transient hyperinsulinemic hypoglycaemia (THH) is associated with risk factors such as prematurity, maternal diabetes mellitus, perinatal hypoxia, small for gestational age (SGA) and syndromes like Beckwith Wiedemann syndrome (BWS).Objective: To present the features of a large cohort of patients with THH managed at a Quaternary referral centre.Method: Patients who had neonatal onset HH that resolved before the 2nd birth...

hrp0086p1-p568 | Perinatal Endocrinology P1 | ESPE2016

A Rare Case of Neonatal Hypothyroidism

Eyton-Chong Chin Kien , Gregory John , Teoh Yee Ping , Weerasinghe Kamal

Case study: Baby A, a boy was delivered at 33 weeks gestation (birth weight 1.545 kg, 9th centile) by emergency caesarean section following maternal preeclampsia. He did not require any resuscitation at birth. He is the second baby of non-consanguineous Asian parents with no family history to note. Both parents are healthy and there was no history of maternal medication use. Baby A experienced respiratory distress syndrome and suspected sepsis. He developed a heart murmur, con...

hrp0086p1-p569 | Perinatal Endocrinology P1 | ESPE2016

Maternal Nutritional Risk Factors Associated with Neonatal Hyperinsulinism

Louvigne Mathilde , Rouleau Stephanie , Bouhours-Nouet Natacha , Donzeau Aurelie , Caldagues Emmanuelle , Souto Isabelle , Montcho Yannis , Bouvagnet Audrey Migraine , Baud Olivier , Leger Juliane , Carel Jean-Claude , Gascoin Geraldine , Coutant Regis

Background: Neonatal hyperinsulinism is the most frequent cause of neonatal recurrent hypoglycaemia. The persistent form can be explained by mutations of genes involved in beta cell function, whereas the transient form can occur in case of prematurity, low birth weight, macrosomia, perinatal hypoxia, and maternal diabetes.Objective and hypotheses: As we observed an increase in the incidence of neonatal hyperinsulinism, we hypothesized that potential mate...