ESPE Abstracts

Background: Defects in growth hormone (GH) action account for a substantial percentage of endocrine causes of growth restriction but are frequently unrecognised due to wide clinical and biochemical variability. We report five probands from three families who present with short stature, features of atypical growth hormone insensitivity (GHI), immune dysfunction, atopic eczema, and gastrointestinal pathology associated with novel recessive variants in a new gene...

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 ...

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...

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...

Background: Wolcott-Rallison syndrome (WRS) is a rare recessively inherited disorder characterized by insulin-dependent diabetes and multiple epiphyseal dysplasia. The disease is also characterized by recurrent episodes of hepatitis or hepatic failure, growth retardation and developmental regression. WRS is caused by biallelic mutations in EIF2AK3, encoding the eukaryotic translation initiation factor-2 kinase 3 (IEF2AK3). EIF2AK3 regulates the synthesis of u...

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...

Studies support the existence of a genetic contribution to both type 1 and type 2 diabetes, and additionally suggest a relationship between both types of diabetes. The rapidly growing worldwide epidemic of type 2 diabetes has been partially explained by obesity and the sedentary lifestyle. However, familial factors also seem to play a major role in the pathogenesis of type 2 diabetes.). The fact that type 1 and type 2 diabetes cluster in families suggests that some patients ma...

Background: Duplication of the long arm of chromosome 4 has been described in more than 60 patients. The severity and specificity of associated symptoms depend on the size and location of the duplication, and which genes are involved.Reported features include developmental delay, intellectual disability, birth defects, hypotelorism, growth retardation, short neck, dysmorphism, and abnormalities to the extremities.Objective: To report a two-year old child...