hrp0089p2-p116 | Diabetes & Insulin P2 | ESPE2018

Effect of a Reduced Fluid Replacement Regimen on the Resolution of Diabetic Ketoacidosis (DKA) in Children

Hapuarachchi Danica Shanee , Ahmed Jaberuzzaman , Gevers Evelien , Moodambail Abdul , Thankamony Ajay

Background: A substantially reduced fluid replacement regimen was introduced in the ‘New’ British Society of Paediatric Endocrinology Diabetes (2015) compared to ‘Old’(2009) guideline for DKA management. However, data on varying fluid replacement regimens is limited and we explored this by comparing outcomes of the 2 guidelines on the resolution of DKA.Methods: In a retrospective audit of consecutively admitted patients (age <18 y...

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 ...

hrp0094p1-23 | Diabetes A | ESPE2021

Capillary blood sample collection at home for HbA1c measurements during the COVID-19 pandemic in children with diabetes mellitus

Qian Hui Lim Rachel , Gireesh Bhat Nikita , Begum Rojina , Shah Pratik Hasmukh , Ayling Ruth , Gevers Evelien ,

Background: The COVID-19 pandemic has resulted in rapid implementation of tele-clinics; patients have frequently missed routine point-of-care HbA1c testing, vital for evaluating long-term glycaemic control. We evaluated the feasibility of remote HbA1c monitoring via self-collection of capillary blood samples at home, and examined clinical characteristics associated with engagement with this system.Methods: Bio-Rad Haemog...

hrp0094p2-113 | Diabetes and insulin | ESPE2021

Health Outcome Indicators in Children with Diabetes Mellitus during the SARS-CoV-2 Pandemic

Gireesh Bhat Nikita , Hui Lim Rachel Qian , Hasmukh Shah Pratik , Gevers Evelien , Nash Elizabeth , Patel Nishal ,

Objectives: The SARS-CoV-2 pandemic has resulted in major cutbacks in service provision to patients. This could be detrimental to children with diabetes mellitus (DM), whose condition could deteriorate from poor access to healthcare. The lockdown has also potentially caused changes in diet, sedentary behavior and psychological burden due to the stress associated with the pandemic, which can have negative effects on glycemic control. Thus, this study compares c...

hrp0094p2-262 | Growth hormone and IGFs | ESPE2021

A Survey on Clinician Perceptions of Long-Acting Growth Hormone Analogs

Howard-James Naomi , Padidela Raja , Raimann Adalbert , Gevers Evelien , Semler Oliver , McDonnell Ciara ,

Background: Daily recombinant human growth hormone (rhGH) has been utilized since 1985 and has been proven to increase height velocity and improve body composition in growth hormone deficiency, various genetic syndromes and chronic kidney disease. Safety and efficacy are well established. Long-acting growth hormone (LAGH) analogs have been developed to improve compliance and patient experience. There are several LAGH preparations in development or early commer...

hrp0097rfc12.2 | Thyroid | ESPE2023

A novel frameshift mutation in Immunoglobulin Superfamily, Member 1 (IGSF1) causing central hypothyroidism, delayed puberty and GH deficiency

Blackburn James , Ahmed Shahida , van Meijgaarden Birgit , Gaston-Massuet Carles , Gevers Evelien

Background: Central hypothyroidism is rare in children. It is often part of multiple pituitary hormone deficiency but can occur in isolation. Isolated central hypothyroidism may be due to mutations in TSHB, TRHR or IGSF1, involved in TRH signalling. We present an adolescent with a novel truncating variant of IGSF1, resulting in delayed puberty, central hypothyroidism and macroorchidism.Case presentation: A 15-year-old ma...

hrp0086fc3.1 | Pituitary | ESPE2016

The MAPK Effector BRAF is Essential for the Integrity of Hypothalamic-Pituitary Development and Deregulation of this Pathway Causes Congenital Hypopituitarism

Gregory Louise , Kypranou Nikolina , Besser Rachel , Vignola Lilliana , Temple Karen , Davis Justin , Gevers Evelien , Dattani Mehul , Gaston-Massuet Carles

Background: BRAF is a component of the RAS/MAPK signalling pathway; germline mutations in components of this pathway are associated with congenital abnormalities such as Cardio-Facio-Cutaneous (CFC), Noonan and Costello Syndromes. These syndromes, known as RASopathies, are characterised by variably penetrant central nervous system, cardiac and facial abnormalities. Importantly, short stature and delayed puberty have been associated with these syndromes, as have featur...

hrp0086p1-p212 | Diabetes P1 | ESPE2016

Permanent Neonatal Diabetes Mellitus due to a Novel Homozygous GCK Mutation in a Premature Baby with IUGR and Its Management

Braha Nirit , De Franco Elisa , Dawes Adam , Sharples Kate , Moodambail Abdul , Hughes Claire , Ellard Sian , Gevers Evelien

Background: Glucokinase (GCK) acts as the glucose sensor of β-islet cells, regulating insulin secretion in response to changing glucose concentrations. Homozygous GCK mutations are a rare cause of permanent neonatal diabetes. Heterozygous mutations lead to GCK MODY, causing mild hyperglycaemia, not usually requiring treatment.Case: The index case was born to consanguineous parents at 36+2 weeks gestation, weighing 1610 g (0.4th centile). Hy...

hrp0084fc4.1 | Growth | ESPE2015

Heterozygous Dominant Negative STAT5B Variants associated with Short Stature and GH Insensitivity

Pease-Gevers Evelien , Neumann David , Klammt Jurgen , Andrew Shayne , Kowalczyk Julia , Metherell Lou , Dattani Mehul , Hwa Vivian

Background: Homozygous mutations in STAT5B result in GH insensitivity and immune dysfunction. Heterozygous dominant negative mutations have not been described.Aims and objectives: To characterize genomic STAT5B DNA in two families exhibiting short stature.Methods: Sanger sequencing of STAT5B from genomic DNA. Mutant STAT5B constructs were expressed in HEK293 cells.Results: ...

hrp0094p1-84 | Pituitary A | ESPE2021

Pituitary Duplication – A rare and heterogenous spectrum

Goff Nicole , Murphy Nuala , Schwitzgebel Valerie , Castets Sarah , Katugampola Harshini , Stojanovic Marko , Petakov Milan , Gevers Evelien , Dattani Mehul ,

Background: Pituitary gland duplication is a very rare developmental abnormality. It is often associated with other midline anomalies including cleft palate, spinal cord and corpus callosum defects, termed duplication of the pituitary gland-plus syndrome. Of the only 40 cases reported in the literature, most are in females and are often associated with precocious puberty. Duplication of the pituitary gland may arise from blastogenesis defects, with splitting o...