hrp0086p2-p294 | Diabetes P2 | ESPE2016

Differences in Hba1c among Different Ethnicities; Is it just a Matter of Mean Glycaemia?

Cocca Alessandra , Holloway Edward , Chapman Simon , Iafusco Dario , Hulse Tony

Background: Several studies have described ethnic differences in HbA1c. Non-Caucasian patients have been found to have an higher HbA1c than the Caucasian ones. These differences have often been attributed to disparities in access to medical care or quality of the care.Objective and hypotheses: Differences in Hba1c among the ethnicities could be related not only to mean glycaemia. The aim of our study was to observe if, at the same level of mean glucose, ...

hrp0095p1-191 | Thyroid | ESPE2022

Hyperthyroidism leading to Idiopathic Intracranial Hypertension in a Child – A Case Report

Agrawal Pankaj , R Kapoor Ritika , A Chapman Simon , Wei Christina , R Buchanan Charles , Bhushan Arya Ved

Introduction: Idiopathic intracranial hypertension (IIH) is a rare neurological condition characterized by raised intracranial pressure (ICP) in the absence of hydrocephalus, brain parenchymal lesion, vascular malformation, or central nervous system (CNS) infection. Hyperthyroidism is a rare but known cause of raised ICP in children and adults, with only a few case reports in the paediatric population. We describe a 7-year-old boy with IIH associated with hype...

hrp0097p1-191 | Thyroid | ESPE2023

Paediatric Graves’ Disease: Presentation, Treatment and Follow up. A Single Centre Experience from United Kingdom.

Vijayan Roopa , Kapoor Ritika , Agrawal Pankaj , Buchanan Charles , Chapman Simon , Arya Ved

Objective: To describe a cohort with paediatric Graves disease followed between 2012 and 2022 at King’s College Hospital, London.Materials and Methods: Retrospective study of 36 patients treated with block and replace regimen of anti-thyroid drugs with a median (range) follow up of 4.25 (1.1-10.8) years. Demographic, clinical, biochemical and treatment data were collected from clinical records. Predictive factors f...

hrp0092p1-215 | GH and IGFs (1) | ESPE2019

Acromesomelic Dysplasia, Type Maroteaux (AMDM): Impact of Long-term (8 years) High-dose Growth Hormone Treatment on Growth Velocity and Final Height in Two Siblings

Arya Ved Bhushan , Raj Meena , Kapoor Ritika R , Chapman Simon A , Younes Maha , Irving Melita , Buchanan Charles R

Introduction: Acromesomelic dysplasia, type Maroteaux (AMDM) is a rare autosomal recessive skeletal dysplasia, characterized by severe dwarfism and disproportionate shortening of the extremities, predominantly affecting middle and distal limb segments. It results from loss-of-function mutations affecting the C-type natriuretic peptide (CNP) receptor (NPR-B), a transmembrane guanylyl cyclase receptor encoded by the NPR2 gene. Resistance to growth hormo...

hrp0084p1-28 | Diabetes | ESPE2015

Clinical Characterisation of a Novel RFX6 Mutation – A Rare Cause of Neonatal Diabetes Syndrome

Cheung Moira , Chapman Simon , Hunt Katie , Makin Erin , Hickey Ann , Hind Jonathan , Ellard Sian , Buchanan Charles , Kapoor Ritika

Background: Mitchell Riley syndrome is a rare syndrome caused by mutations in the RFX6 gene, resulting in neonatal diabetes, intestinal atresia, pancreatic abnormalities, and biliary hypoplasia. RFX6 is a winged helix transcription factor that is expressed in the developing pancreas and in the gut endoderm. Previous eight case reports highlight poor outcomes with usually a fatal course in infancy.Case presentation: Twin 2 of a dichorion...

hrp0084p2-471 | Growth | ESPE2015

Growth and Metabolic Phenotypes in Patients with SRS: a Multi-Centre Cross-Sectional Observational Study

Aston Kayleigh , Grosvenor Gemma , Peters Catherine , Mathew Verghese , Blair Joanne , Chapman Simon , Buchanan Charles , Maher Eamonn , Dias Renuka

Background: Silver–Russell syndrome (SRS; OMIM 180860) is a genetically and clinically heterogeneous low birthweight syndrome characterised by poor postnatal growth and a number of variable dysmorphic features. Small-for-gestational age infants in general have an increased risk of metabolic complications, some initially occurring in late childhood and adolescence.Objective and hypotheses: To identify i) response to GH based on genotype and ii) devel...