ESPE Abstracts

Background: Congenital hypothyroidism (CH) is the commonest congenital endocrine disorder in the world and also the commonest most preventable cause of mental retardation. Screening is mandatory in developed countries, but none exists in sub-Saharan country. We present a preliminary report of the first Nigerian screening for CH.Objective and hypotheses: To screen normal newborn babies in different regions in Nigeria and to determine the normal range of T...

Introduction: The envelope protein of Human Endogenous Retrovirus type W (HERV-W-Env) has been shown to be associated with type 1 diabetes (T1D) pathogenesis in adults patients. This protein is expressed in pancreas of T1D patients and it seems to correlate with macrophage infiltrations. In vitro and in vivo studies have demonstrated that HERV-W-Env inhibits insulin secretion and promotes hyperglycemia. Furthermore, HERV could be implicated in other auto-immune disorders. The ...

Introduction: Osteogenesis imperfecta (OI) is a rare heterozygous disorder of collagen production. It is characterized by low bone mass, bone fragility, blue sclera, and progressive hearing loss. Expanded Sillence Classification divides OI into 7 types with Type I OI as the mildest and commonest form. Hyperplastic callus (HC) is a rare but characteristic complication in patients with OI type V. We report a infant with Type I OI with hyperplastic callus.<p ...

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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: 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...

Background: Fanconi Bickel syndrome (FBS) is a rare form of glycogen storage disease (GSD) inherited in an autosomal recessive manner and caused by mutations in the SLC2A2 gene leading to the loss of GLUT2 glucose transporter expression. The disease is considered to be rare in which a little more than 100 cases have been reported in the literature. The SLC2A2 gene encodes for GLUT2, a low affinity facilitative glucose transporter expressed in critical tissues ...

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...