ESPE Abstracts

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: 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...

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...

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: 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...

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...