ESPE Abstracts

Background: The global prevalence of childhood and adolescent obesity has surged since 1980, reaching 107.7 million cases in 2015. Notably, 23% of children in developed countries are overweight or obese. The Atherogenic Index of Plasma (AIP) emerges as a novel, robust biomarker, closely linked to obesity, and serves as a reliable indicator of dyslipidemia and associated conditions, including cardiovascular diseases.Aim: ...

Introduction: Hypothyroidism in children leads to growth retardation. However, there is some evidence that recombinant human growth hormone (rhGH) therapy could suppress thyroid function. The actual incidence is controversial, however, with some studies showing a rare and others a high occurrence.Aim and Methods: This study examines the effects of Growth Hormone (GH) therapy on thyroid function, specifically focusing on ...

Introduction: This review aims to chronologically summarize MRI findings in children with GHD, correlating these changes with clinical characteristics and GH testing results, and IGF-1 levels.Methods: We reviewed MRI studies conducted from 1991 to 2024, focusing on structural and functional brain changes in children with GHD. Data were extracted from various studies and arranged chronologically.<st...

Background: MicroRNAs (miRNAs) are short non-coding RNAs that repress target gene expression via post-transcriptional mechanisms.Objective and hypotheses: To study the expression of miRNA-25, miRNA-216, miRNA-21, miRNA-93, miRNA-377 in a sample of 100 type 1 diabetic patients with and without microalbuminuria to probe their role in development of diabetic nephropathy.Methods: Hundred type 1 diabetic patients, 50 with microalbuminur...

Introduction: Lonapegsomatropin (SKYTROFA, TransCon hGH), a prodrug of somatropin administered once-weekly, is approved for the treatment of pediatric growth hormone deficiency (GHD) by the Food and Drug Administration and European Commission. In the pivotal 52-week phase 3 heiGHt trial and 26-week fliGHt trial (enrolled treatment-naïve and treatment-experienced participants, respectively), lonapegsomatropin demonstrated safety and efficacy in children wi...

Background: Vitamin-D deficiency becomes a worldwide issue, and major cause of rickets in younger age groups. Multiple causes lead to vitamin-D deficiency in which nutritional causes contribute the major factor. The synthesis of bioactive vitamin-D requires hydroxylation at 1α and 25 positions by cytochrome-P450 in the kidney and liver, respectively. Recently, human CYP2R1 has been reported as a major factor for 25-hydroxylation, in which it contributes for the inherited ...

Background: Sitosterolemia, a rare autosomal recessive defect in lipid metabolism, is caused by mutations in the transporter genes ABCG5 and ABCG8 coding receptors on the luminal surface of enterocytes. Thus, hyperabsorption of non-digestible plant sterol in tissue and blood resulting in cardiovascular (CVD) sequalae. Here we report a case of Sitosterolaemia incidentally diagnosed on whole exome sequencing (WES) for bony lesions in a young Saudi girl with asym...

Background: Although the clinical presentations of congenital adrenal hyperplasia (CAH) have been studied in Saudi children, the literature review revealed no molecular report of 21-hydroxylase was published.Objective and hypotheses: The aim of this study was to determine the pattern of CYP21A2 gene-mutations of CAH in Saudi children.Method: Between January 2011 and March 2014 at King Fahad Military Complex, Dhahran, Saudi Arabia, ...

Background: The need to understand the relationship between bone, muscle, and fat within the bone-muscle unit has recently gained great prominence. Although high resolution (HR) MRI is a non-invasive imaging modality that can provide this information, there is limited expertise in children and young people.Objectives: To establish MRI-based normative data for bone, bone marrow adiposity and muscle adiposity in children a...

Introduction: Congenital Adrenal Hyperplasia (CAH) is a chronic disease that requires life-long hormonal replacement therapy. Growth of patients with CAH can be affected by this therapy or the hyperandrogenic effect of the disease. In this study, we aimed to assess the potential effect of CAH and its therapy on final height in Saudi affected patients.Methodology: This is a retrospective cohort study from two tertiary end...