ESPE Abstracts

Background: Recombination-activating genes (RAG) 1 and 2 have a key role in adaptive immunity plasticity protecting against enormous diverse antigens [1]. RAG1/RAG2 defects result in several forms of primary immunodeficiencies (PI) which are, nowadays, increasingly treated by Hematopoietic Stem Cell Transplantation (HSCT) [1-3]. Both, PI and HSCT, predispose to autoimmune thyroid disease (AITD) which is otherwise uncommon in young children [4,5]. It is believe...

Introduction: Thyroid hormone (TH) is important for normal growth and function of kidneys [1,2]. Hypothyroidism decreases responsiveness to B-adrenergic stimulation resulting in diminished cardiac contractility, blood pressure, and vasodilator secretion leading to lower renal blood flow [3]. Glomerular filtration rate (GFR) can be reduced by up to 40% and a direct relationship between serum creatinine (SCr) and thyroid-stimulating hormone (TSH) levels was elic...

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...

Introduction: Mutations in PTPN11 gene accounts for 50-60% of genetically identified patients with Noonan syndrome (NS). This report is of three siblings with familial NS due to mutation in PTPN11. Among the three, two of them have an additional mutation in PLOD1 gene and have normal height. The sibling who is shorter compared to the other two does not have this additional mutation. PLOD1 -related kyphoscoliotic Ehlers-Danlo...

Introduction: Mendelian diseases are rare individually but collectively are estimated to affect more than 5% of global population with more than 6000 different rare phenotypes including monogenic forms of diabetes. The proportion of individuals who possess a particular genotype and exhibit the expected phenotype is defined as the penetrance of that genotype. If everyone with the genotype presents with clinical symptoms by a particular age, then it is said to b...

Background: Achondroplasia, the most prevalent skeletal dysplasia in children, is a multisystemic disease resulting from a common mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. This mutation disrupts endochondral ossification, leading to disproportionate short stature. Historically, management has been primarily supportive due to the absence of targeted therapies. However, recent advancements have led to clinical trials for potential treatme...

Background: Childhood obesity is recognized as a chronic illness with limited therapeutic options. Addressing this condition through lifestyle interventions has proven to be challenging, particularly for adolescents, with only minimal outcomes observed. The use of GLP-1 agonists (such as Liraglutide) for reducing body weight in pediatric patients has yielded conflicting results. To date, no studies conducted in the Middle East have reported on the outcomes of ...

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...

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:<...

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...