ESPE Abstracts

Obesity remains a critical global health concern. Traditional treatment often yields limited results, necessitating innovative solutions. The Evira tool; comprising a digitless scale and a mobile application with real-time feedback, addresses these challenges by enhancing home- based monitoring. The primary aimwas to evaluate its efficacy for childhood obesity treatment in Abu Dhabi, with a secondary objective to establish non-inferiority compared to outcomes in Stockholm, Swe...

Background: Congenital adrenal hyperplasia (CAH) due to steroid 11β-hydroxylase deficiency is the second most common form of CAH, resulting from a mutation in the CYP11B1 gene. Steroid 11β-hydroxylase deficiency results in excessive mineralcorticoids and androgen production leading to hypertension, virilisation, and ambiguous genitalia of genetically female infants.Objective: The aim of the study was to identify the molecular detect ca...

Background: Recombinant GH (rGH) treatment is approved in many countries for treatment of short stature in a number of childhood diagnoses. rGH was first introduced in Kuwait in the 1990s. Since its introduction, there has been no reported data on the clinical profile of treated children. There is a huge gap in knowledge of use and response to Paediatric rGH therapy in Kuwait and the region.Objective and hypotheses: The objective of this study is to repo...

Background: X-linked hypophosphataemic rickets (XLH) is a genetic disorder, characterized by hypophosphatemia and caused by a mutation in the phosphate regulating endopeptidase homolog, X-linked (PHEX) gene which leads to overexpression of fibroblast growth factor 23 (FGF23).1,2 Conventional therapy, supplementation with oral phosphate and vitamin D analogs, does not treat the underlying cause of the disorder and is associated with poor treatment ad...

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...

Case 1: Twelve-year-old girl, presented with symptomatic hypoglycemia at the age of four. At six, she has type 1 diabetes mellitus (T1DM) started on insulin pump with excellent glycemic control. Genetic testing sent suspected MODY, revealed heterozygous variant in WFS1 gene, representing autosomal dominance inheritance. She screened for WFS associated disorder; negative.Case 2: Eighteen-year-old male with T1DM on insulin...

Introduction: Familial chylomicronaemia syndrome (FCS) is a rare autosomal recessive disorder caused by mutations in lipoprotein lipase, resulting in the accumulation of chylomicrons in plasma and therefore hypertriglyceridemia. Elevated triglycerides (TG) cause several complications, the most serious one is recurrent pancreatitis. The mainstream of management is a fat-restricted diet, followed by supplementing with Omega-3 fatty acids. Fenofibrate, and statin...

Background: As a global pandemic and a public health concern, obesity impacts physical health adversely. Obesity is defined as abnormal excessive fat accumulation in adipose tissue. Where a portion of which have polygenic and monogenic etiology. Individuals carrying a rare gene variant that has a striking impact on adiposity are considered to be part of Monogenic obesity. In this study, we aimed to identify the presence of monogenic mutations contributing to e...

SLDP is where the onset of puberty is more than 2-2.5 standard deviations later than the population mean age and is often familial with strong genetic determinants. The reproductive axis is regulated by gonadotropin-releasing hormone (GnRH), which plays a crucial role in initiating puberty and maintaining fertility through its pulsatile secretion. Disruption in GnRH neuron development or hypothalamic function can lead to DP. UK Biobank data has identified negative health outco...

Raine Syndrome (RS) caused by biallelic loss-of-function mutations in FAM20C gene and characterized by hypophosphatemia, typical facial and skeletal features. RS usually lethal during neonatal period due to severe respiratory distress. However, a non-lethal RS form existed with very limited description in literature.Objective: To increase awareness about non-lethal RS form.Case Description:</strong...