ESPE Abstracts

Introduction: During management of Diabetic ketoacidosis (DKA), and after starting the insulin infusion, it is crucial to monitor the blood glucose level frequently. If the glucose level drops quickly or below certain limit when there is still an evidence of ketonemia, it is recommended to add dextrose to the maintenance fluids and continuing the insulin infusion to switch off the ketosis process. However certain measures are required when the glucose continue...

Introduction: Diabetic ketoacidosis (DKA) is a known complication of diabetes mellitus, mainly type1. It is a medical emergency condition. The recent British paediatric DKA guideline clearly recommends involving a senior clinician at time of diagnosis, usually either an emergency medicine or general paediatric doctor. There is no clear recommendation of when to consult the on-call paediatric endocrinologist or diabetologist who covers the admission of diabetic...

Background: Dual-specificity tyrosine phosphorylation-regulated kinase 1B (DYRK1B) is a nutrient-sensing protein that suppresses the RAS–RAF–MEK pathway and is known to have a role in glucose uptake and glycolysis. The expression of DYRK1B increases during adipogenic differentiation suggesting an important role in adipogenesis. Mutations in DYRK1B have been described in three Iranian families and five Caucasian patients w...

Background: The leptin-melanocortin pathway is pivotal in appetite and energy homeostasis. Pathogenic variants in genes involved in this pathway lead to severe early-onset monogenic obesity (MO). The MC4R gene plays a central role in the leptin-melanocortin, and variants predominantly heterozygous in this gene, are the most common cause of MO. We identified a novel heterozygous variant c.802T>C p.Tyr268His in the MC4R gene in two unrelated patients with mor...

Introduction: Glycated hemoglobin (HbA1c) is a rough indicator of glycemic control and not useful to evaluate aspects related to acute or daily glycemic changes in diabetic patients. With the emphasis on intensive management of type 1 diabetes (T1DM), data from studies support using Continuous Glucose Monitoring (CGM) to improve glycemic control and reduce glucose variability, which is related to an increase in macro and microvascular complications.<p clas...

Introduction: Childhood obesity is a significant public health concern, affecting over 100 million children worldwide, with an overall prevalence of 13%. A previous Omani study in 2012 suggested the prevalence of childhood obesity in Oman was 12.5%.Objectives: This study aims to identify the prevalence of childhood obesity among children under the age of 13 yrs, who visited various pediatric outpatient clinics at Sultan ...

Background: Recurrent episodes of ketoacidosis with or without hypoglycemia have been reported with homozygous or heterozygous mutations in the solute carrier family 16 member 1 (SLC16A1) gene. This gene encodes for the monocarboxylate transporter 1 (MCT-1) which plays a key role in lactate, pyruvate and ketone body transport.Objective(s): To describe the youngest patient with a novel SLC16A1 gene who presented with recurrent episodes of ketoacidosis and...

Background: Mutations in the SLC2A2 gene are implicated in Fanconi-Bickel syndrome (FBS). This is a rare form of glycogen storage disease (GSD) inherited in an autosomal recessive manner characterized by hepato-renal glycogen accumulation, impaired glucose and galactose utilization, and proximal renal tubular dysfunction. The world-wide frequency of Fanconi-Bickel syndrome is not known, though the disease is considered to be rare in which a little more that 100 cases ...

Background: There are few reports describing proximal deletions of chromosome 20p, making it difficult to predict the likely consequences of the deletion in this area. One report has described a proximal 20p11.2 deletion associated with panhypopituitarism, craniofacial dysmorphism, a small phallus with a semi bifid scrotum, and bilateral widely separated first and second toes. The only other report has demonstrated neurodevelopmental abnormalities associated with band 20p11.2 ...

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...