ESPE Abstracts

Introduction: Graves’ disease (GD) is a leading cause of hyperthyroidism in all age groups. Clinical presentation, methods and overall goals of therapy can be variable in different age groups. We aimed to study the prevalence of GD, the attitude of treating physicians towards management preferences as well as patient response pattern amongst children and adolescents with GD in Saudi Arabia.Methods: A cross sectiona...

Background: Hereditary Vitamin D-Resistant Rickets (HVDRR) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) resulting in end organ resistant to 1a,25-dihydroxyvitamin D, [1,25(OH)2D]. Majority of HVDRR has Elevated 1, 25(OH)2D which is a hallmark for diagnosis of this disease. High doses of vitamin D, oral calcium and most importantly IV calcium infusion are the mode of therapy in HVDRR.A...

Background: Laron syndrome is an autosomal recessive disease caused by molecular defect in GH receptor gene. The patients have severe growth retardation and clinical features of GHD with low IGF-1, high basal GH and failed response to IGF-1 stimulation test. The only proved treatment is daily recombinant IGF-1 administration which showed improvement in linear growth.Aim: To describe the largest group of patients with lar...

Background and Objectives: Offspring born to obese mothers are at an increased risk of chronic disease including type 2 diabetes (T2D), obesity, hypertension, cardiovascular disease (CVD), non-alcoholic fatty liver disease (NAFLD) and chronic kidney disease (CKD). This metabolic programming is produced, in part, by epigenetic changes such us DNA methylation. We postulated that obesity exposure impacts the offspring's methylome and used an epigenomic approa...

Background: Lipodystrophy syndromes comprise a large group of extremely rare diseases characterized by loss or dysfunction of adipose tissue. Due to their extreme rarity and variability, research in the field of lipodystrophy is difficult for single centres warranting larger co-operations.Methods: Therefore, the European Consortium of Lipodystrophies decided to found an international registry in 2016. This registry is ba...

Aims: Historical I-CAH data shows considerable variation in the management of 21-hydroxylase deficiency (21-OHD) congenital adrenal hyperplasia (CAH) in infancy despite existence of several guidelines. Using the I-CAH registry we analysed contemporary early infancy natural history data, creating benchmarks as part of continuous quality improvement.Methods: Of 136 infants born in 2018-2023 and treated for 21-OHD CAH withi...

Context: The response to lifestyle modification (LSM) in children with obesity is variable and difficult to predict.Aim: A systematic search for identifying common single nucleotide polymorphisms (SNPs) to predict positive outcomes of LSM in pediatric obesity management, defined as decrease in BMI z-score (based on IOTF).Patients/Methods: Out of 240 children with obesity (BMI>97...

Introduction: The prevalence of diabetes for all age-groups worldwide was estimated to be 28/1000 in 2000 and 44/1000 in 2030 (1). In the SEARCH study in a population of 3,458,974 US youth less than 20 yrs the prevalence of T1D was 1.93/1,000 and type 2 diabetes 0.24/1,000 (2).Methods: We reviewed data on already diagnosed patients with type 1 and type 2 diabetes from official statistical collection of Ministry of Health of Kazakhstan in 2016 (3).<p ...

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...

Background: Primary adrenal insufficiency (PAI) is a rare but life-threatening condition. Its diagnosis is frequently delayed due to its nonspecific and diverse symptoms. The etiology of PAI is heterogeneous and varies among populations.Objective: The objective of this study was to characterize the clinical and hormonal phenotypes of Thai children with PAI and to determine the underlying genetic defects.<p class="abs...