ESPE Abstracts

Background: Hypoglycemia is a common side effect of insulin replacement therapy in patients with type 1 diabetes mellitus (T1DM). With the advancement of diabetes technology, sensor-augmented pump therapy (SAP) with predictive low glucose suspend feature offers a potential solution for hypoglycemia in patients with T1DM. However, evidence from randomized trials about the efficacy and safety of PLGS is limited.Method: We ...

Background: X-linked hypophosphatemia (XLH) is a rare, often debilitating genetic disorder caused by mutations in the phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) that is characterized by excess fibroblast growth factor 23 (FGF23), hypophosphatemia, skeletal deformities, and growth impairment.1,2 Conventional therapy with the combination of phosphate and active vitamin D is associated with poor treatment adh...

Context: Monogenic obesity (MO) is a rare form of obesity due to pathogenic variants in genes implicated in the leptin-melanocortin signaling pathway and accounts for around 5% of severe early-onset obesity. Mutations in the MC4R and Leptin genes are the commonest causes of MO. Determining the genetic causes has important clinical benefits as novel therapeutic interventions were developed for some forms of MO.Objective:<...

The incidence of both type 1 (T1DM) and type 2 diabetes (T2DM) has shown a rise in Qatar in parallel with a notable increase in the incidence of a new expression of the disease in children and adolescents, with the characteristics of a mixture of the two types of diabetes and referred to as ’double diabetes’ (DD). Insulin resistance and obesity, together with the presence of markers of pancreatic autoimmunity - namely, autoantibodies to islet cell antigens - typicall...

Background: X-chromosome monosomy is the most common sex abnormality in females, with a higher prevalence of cancer than the general population. Virilizing adrenocortical tumors are rarely seen in patients with Turner’s Syndrome. There have been 2 reported cases of simultaneous TP53 mutations (Li Fraumeni’s syndrome) and Turner’s syndrome. Here we report first case with this rare association from Kuwait.Clinical...

Background: Obesity is highly prevalent in the MENA region, especially in children and it has been associated with neurodegeneration. We have undertaken corneal confocal microscopy (CCM) to assess for evidence of neurodegeneration in children with simple obesity and monogenic obesity (MC4R gene mutation) and further assessed the effect of glucagon-like peptide 1 agonist (GLP-1) therapy on corneal nerve regeneration.Methods:</stro...

Background: Woodhouse-Sakati syndrome (WSS) is a rare, autosomal recessive genetic disorder with variable clinical manifestations mainly affecting the endocrine and nervous systems. Diabetes mellitus is one endocrine manifestation but there are no comprehensive data on the epidemiology, clinical features, underlying mechanisms, and management, particularly within the Qatari population.Methods: This retrospective study wa...

Introduction: The overall age-adjusted incidence of type 1 diabetes (T1DM) varied from 0.1/100,000 per year in China and Venezuela to 36.8/100,000 per year in Sardinia and 36.5/100,000 per year in Finland. This represents a 350-fold variation in the incidence among the 100 populations Worldwide. In the early 1990s, T2DM it was representing about 3 percent only of pediatric diabetes in the United States, but by 2003, T2DM reached about 20 percent of pediatric diabetes.<p cl...

Introduction: The clinical and genetic characteristics of T1D cases with and without affected family members have been previously studied with varying results. Some investigators found a similarity of presenting features whereas others reported significant differences between the two groups.Patients and methods: This was a cross sectional descriptive study to determine the clinical presentation and prevalence of beta cell autoimmunity (Anti GAD, anti-isl...

Introduction: Type 1 diabetes (T1DM) is an autoimmune disease with abnormal immune responses to specific β-cell autoantigens, resulting in insulin deficiency. Children and adolescents with T1DM may also develop organ-specific autoimmunity. The most frequently reported disorders are thyroid dysfunction and celiac disease. There are limited previous studies on the prevalence of associated autoimmunity, especially multiple, in children with T1DM.Aim: T...