hrp0084p2-461 | Growth | ESPE2015

French Growth Reference Charts should be Updated

Stoupa Athanasia , Goischke Alexandra , Garcin Camille , Elie Caroline , Viaud Magali , Thery Anne , Richard Genevieve , Polak Michel

Background: Growth charts constitute an important tool to monitor a child’s growth and development, and thus detect growth anomalies. Growth assessment allows early referral and management of treatable disorders. In France, the currently used growth reference charts were derived at the end of 1970s, based on children born on 1950s in Paris area. Questions are raised about their use for growth monitoring of more recently born children.Objectives: To ...

hrp0084p3-591 | Adrenals | ESPE2015

Pseudohypoaldosteronism – Subtle Presentations with Critical Electrolyte Imbalances Experiences from One Hospital

Ponmani Caroline , Karampoulos Kostas , Keane Morgan , Gomes Sylevester , Eaqub Aber , Banerjee Kausik

Background: Secondary pseudohypoaldosteronism presents with hyponatremia and hyperkalemia due to a transient aldosterone resistance.Objective and hypotheses: We recommend a check of urea and electrolytes in all infants with urinary tract infection, dehydration and failure to thrive.Method: A 5 month old presented with a day’s history of poor feeding and two episodes of vomiting. He was afebrile with normal observations. His ur...

hrp0084p3-760 | Diabetes | ESPE2015

Neonatal Diabetes – the Great Masquerader: Experiences from One Hospital

Ponmani Caroline , Allgrove Jeremy , Gevers Evelien , Keane Morgan , Banerjee Kausik , Besser Rachel

Background: Neonatal diabetes can present from birth to six months of age. This can often be confused with sepsis as there is considerable overlap of symptoms in this age group as illustrated below.Objective and hypotheses: The cases described illustrate the importance of blood glucose monitoring in sick infants presenting to emergency care settings we recommend an initial check of blood glucose concentrations in all sick infants who present to Accident ...

hrp0094p1-29 | Diabetes A | ESPE2021

Incidence and severity of new-onset paediatric Type 1 diabetes in the COVID-19 pandemic – a UK multicentre perspective

Ponmani Caroline , Sakka Sophia , Wickramarachchi Chandu , Redpath Yvette , Ajzensztejn Michal , Kanumakala Shankar , Hulse Tony ,

Background: Paediatric diabetes has been the focus of attention during the COVID-19 pandemic. There are reports of increased incidence of new-onset type 1 paediatric diabetes and concerns about delayed presentations to the Emergency Department (ED) due to parental fears of SARS-CoV-2, resulting in an increase in the incidence and severity of DKA in children with new-onset diabetes.Objectives: To characterise the features...

hrp0094p1-30 | Diabetes A | ESPE2021

Metabolic Control and Health-Related Quality of Life in Children with Diabetes Mellitus during the COVID-19 Pandemic: Results from a Prospective Swiss Cohort Study

Vural Serpil , Kahlert Christian , Gozzi Tiziana , Heldt Katrin , Roduit Caroline , Lauener Roger , l’Allemand Dagmar ,

Introduction: The COVID-19 pandemic led to regional lockdowns and restrictions associated with changes in lifestyle and quality of life (QoL) thus potentially burdening metabolic control in Diabetes Mellitus (DM). We examined whether the stages of restrictions lead to changes in QoL and metabolic control in children with DM.Methods: Starting in April 2020, this monocentric prospective longitudinal cohort study included c...

hrp0094p1-190 | Pituitary B | ESPE2021

Six novel variants in the MKRN3 gene causing central precocious puberty: characteristics of ten patients and their affected relatives

Gernay Caroline , Brachet Cecile , Tenoutasse Sylvie , Boros Emese , Libioulle Cecile , Heinrichs Claudine ,

Background: In 2013, Abreu et al identified loss-of function mutation in the MKRN3 gene of fifteen patients from five families with idiopathic central precocious puberty (iCPP), highlighting the implication of this maternally imprinted gene in this still poorly understood condition. Since this study, other mutations have been described and now represent the most common genetic cause of iCPP.Objective: The objective of th...

hrp0094p2-125 | Diabetes and insulin | ESPE2021

Focal Congenital Hyperinsulinism in Infancy is Directly Linked to Increased Numbers of Islet Pancreatic Polypeptide Cells in Islets.

Banerjee Indraneel , Worth Chris , Salomon-Estebanez Maria , Yau Daphne , Jabbar Shamila , Hall Caroline , Dunne Mark ,

Congenital Hyperinsulinism (CHI) is primarily associated with defects in the regulated release of insulin from ß-cells but little information is available about the role of other islet cell types. Pancreatic polypeptide (PP) cells represent a minor component of the islet endocrine cell population. PP causes satiety, decreases gastrointestinal tract motility and suppresses glucagon release. Since CHI is associated with feeding problems and loss of glucagon-mediated counter...

hrp0094p2-150 | Diabetes and insulin | ESPE2021

PIMS-TS [Paediatric Inflammatory Multisystem Syndrome Temporally associated with SARS-CoV-2 (Covid-19)] in a child with new onset type 2 diabetes

Sakka Sophia , Mohan Meena , Price Abigail , Handforth Jennifer , Wong James , Nyman Andrew , Ponmani Caroline ,

Introduction: PIMS-TS [Paediatric Inflammatory Multisystem Syndrome Temporally associated with SARS-CoV-2] is a unique clinical complication of COVID -19 infection in paediatric patients. We report a case of a child presenting with PIMS-TS and new onset type 2 diabetes.Presentation: A previously healthy 15 year old boy of Bengali-Indian origin presented to the hospital with polyuria, polydipsia, dry cough, abdominal pain and 1 episode of...

hrp0094p2-263 | Growth hormone and IGFs | ESPE2021

Pituitary gland volume measured by Magnetic Resonance Imaging as diagnostic predictor of persistent Childhood-onset growth hormone deficiency

Corredor-Andres Beatriz , Walton-Betancourth Sandra , Brain Caroline , Butler Gary , Hindmarsh Peter , Dattani Mehul ,

Introduction: Pituitary imaging is important for the evaluation of hypothalamo-pituitary axis defects in patients diagnosed with childhood-onset growth hormone deficiency (CO-GHD). Published evidence shows that there is a close relationship between structural changes in the pituitary gland and growth hormone deficiency.Aim: To evaluate the relationship between clinical, laboratory and magnetic resonance imaging of the pi...

hrp0094p2-283 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Assessment of genetic defects, baseline characteristics and adverse events reported in the Increlex® registry

Polak Michel , Bang Peter , Perrot Valerie , Sert Caroline , Storr Helen L. , Woelfle Joachim ,

Background: Certain genetic defects in the growth hormone (GH)/insulin-like growth factor 1 (IGF-1) axis are associated with severe primary IGF-1 deficiency (SPIGFD) and short stature. Detection of genetic defects may confirm short stature aetiology alongside clinical/biochemical features. Increlex® is a recombinant human IGF-1 (rhIGF-1) approved for children/adolescents with SPIGFD.Methods: The Increlex<...