ESPE Abstracts

Background: Mutations in the nicotinamide nucleotide transhydrogenase (NNT) gene are a rare cause of primary adrenal insufficiency (PAI), as well as cardiomyopathies and functional impairment of the gonads.Objective: Despite the description of different NNT mutations in homozygosis and compound heterozygosis in PAI patients, it remains to be clarified to which extent the function and expression of the m...

Introduction: Debate still exists about the safety of long-term use of prednisone (P) versus hydrocortisone (HC) for treating children with congenital adrenal hyperplasia -21OH D (CAH).Aim: To investigate the linear growth and weigh gain as well as metabolic component in children with CAH who were treated with either HC or P since early infancy for 5 years or more.Methods: Data of ...

Introduction: The EOSS is a clinical tool to assess the burden of obesity and has been shown in adults to predict later morbidity and mortality. We found that the pediatric version (EOSS-P) appears to predict later cardiometabolic outcomes, however whether it is a better predictor than anthropometrics alone remains unclear.Objectives: To compare associations between EOSS-P stage at 8-10 years and cardiometabolic outcomes...

Objectives: Thiamine responsive megaloblastic anemia syndrome (TRMA) is characterized by the clinical triad of megaloblastic anemia, non-immune diabetes mellitus and sensorineural deafness. It is a very rare autosomal recessive disease with an increased frequency in consanguineous marriages and isolated communities. The syndrome is due to intracellular thiamine deficiency which is the result of a defective high affinity low performance thiamine transporter pro...

Background: Familial Hypercholesterolaemia (FH) is a common autosomal dominant disorder of low-density lipoprotein (LDL) metabolism characterised by elevated levels of plasma LDL-cholesterol (LDL-C), accelerated atherosclerosis and premature cardiovascular disease (CVD). In the Gulf Co-operation Council states, CVD is often diagnosed at a younger age and is the leading cause of mortality. As such, early genetic diagnosis and treatment of FH is important for ri...

Introduction: Exercise has pleiotropic positive effects for children and adolescents with Type 1 Diabetes (T1D). It improves glycemic control, daily insulin requirements, quality-of-life, morbidity and mortality rate. Leptin and adiponectin are adipocytokines produced by adipose tissue cells. Adiponectin is anti-atherogenic, anti-diabetic and anti-inflammatory, whereas leptin induces insulin resistance, has thermoregulatory properties and is pro-inflammatory.<...

Background: Although GH’s safety profile since 1987 is good, concerns remain regarding cancer (CA) risk, and French SAGhE data indicated increased mortality and cerebrovascular disease (CVD) in certain GH-treated patients (pts).Objective and hypotheses: To evaluate key safety outcome incidence in GH-treated pts of all short stature diagnoses (dx) who participated in GeNeSIS (1999–2015, 30 countries).Methods: Pt history/ca...

Background: The myokine irisin, is associated with the metabolic and hormonal dysregulation of polycystic ovary syndrome (PCOS) in adult women. Recent studies have shown that circulating irisin levels increase in adult women with PCOS.Objective and hypotheses: The purpose of this study was to determine serum concentrations of irisin in lean adolescents with PCOS and healthy controls and to evaluate correlations with clinical, sonographic and hormonal par...

Background: Secreted frizzled-related protein 5 (Sfrp5) is a relatively novel adipokine with anti-inflammatory properties. Recent evidence suggests that it plays a role in obesity and its metabolic complications. However, data on Sfrp5 regulation in relation to obesity in children are scarce.Objective: To investigate the effect of a 1-year personalized, comprehensive, multi-disciplinary, lifestyle intervention program of...

Objective: Pediatric hypertriglyceridemia (HTG), has considerable phenotypic and genotypic variability. We aim ed to describe the clinical and genotypic profile of Indian children presenting with severe HTG.Methods: This retrospective study (January 2022-December 2023) was conducted in children up to 12 years of age. Those presenting with severe HTG (triglycerides >500 mg/dL) were included after exclusion of known sec...