ESPE Abstracts

Cleidocranial dysplasia (CCD) is a rare genetic condition affecting bone and cartilage growth, primarily transmitted in an autosomal dominant manner. Characterised by the triad of clavicular hypoplasia, delayed closure of cranial sutures, and dental anomalies, CCD was first described in 1765, with its hereditary nature established in 1898. The condition is associated with mutations in the RUNX2 gene, which is important in osteoblastic differentiation. With a prevalence of 1:1,...

Introduction: Abetalipoproteinemia is a rare genetic disease with autosomal recessive inheritance, caused by biallelic mutations in the microsomal triglyceride transfer protein (MTTP) gene¹. Its worldwide prevalence is estimated at 1:1,000,000², with approximately 100 cases reported in the literature³. Epidemiological data on this pathology in Brazil are not found in the literature.Case Report: J.O.S.C, a ...

Introduction: Telemedicine, or the use of CIT (Communication and Information Technology) to deliver and/or share medical remote assistance and knowledge, is of paramount importance, mainly in large countries, with social and economic disparities, as Brazil, by means of teleconferences, webconferences, webcasts and use of a wide range of interactive technologies, helping activities of assistance and professional health education. One of the activities provided by our RUTE (Univ...

Introduction: Neck Circumference (NC) has been pointed out as an important indicator in the evaluation of overweight and may be useful to determine the level of obesity and metabolic alterations.Objective: To verify the relationship between the NC and the lipid profile in adolescents with overweight or obesity.Methods: A cross-sectional study with adolescents between 10 and 19 years old, of both sexes attended at the Endocrinology ...

Background: Impairment of the chromatin remodeling factors ATRX and DAXX and telomeres abnormality play a role in cancer biology, influencing the clinical outcomes. However, their roles in adrenal tumorigenesis require broader investigation.Aim: To evaluate ATRX and DAXX genotype and expression, telomere length, and the alternative lengthening of telomeres (ALT), as well as their clinical significance, in primary adrenoc...

Abnormal DNA methylation contributes to tumor progression and is emerging as a prognostic marker in several types of cancers. To investigate whether DNA methylation is associated with pediatric adrenocortical tumor (pACT) presentation and patient prognosis, we analyzed the methylation profile of 57 tumors (MethylationEPIC BeadChip Array-Illumina) and patients’ clinicopathological features and outcome. The study comprehended 40 girls and 17 boys, with median age at diagnos...

Background: The ACTION Teens study aimed to identify attitudes, behaviours and perceptions among adolescents living with obesity (ALwO), caregivers of ALwO (CGs) and healthcare professionals (HCPs) who treat ALwO. This subanalysis assessed the mental well-being and self-esteem of ALwO.Methods: ACTION Teens was a global, cross-sectional study (NCT05013359) that surveyed 5275 ALwO (aged 12–<18 years), 5389 CGs and...

Background: This subanalysis of the ACTION Teens study aimed to explore perceptions of obesity and food/diet among adolescents living with obesity (ALwO) and caregivers of ALwO (CGs) who were unaware of their/their child’s obesity.Methods: The global, cross-sectional ACTION Teens survey study (NCT05013359) assessed perceptions, attitudes and behaviours among 5275 ALwO (aged 12–<18 years), 5389 CGs and 2323...

Background: Obesity rates in children and adolescents have increased dramatically across the globe, and the lifelong impact of obesity is more severe when onset begins at ≤20 years of age. However, the experiences, challenges and needs of adolescents living with obesity (ALwO), their caregivers, and the healthcare providers (HCPs) who treat them are poorly understood. ACTION Teens, the first study of its kind, aims to improve the lives of ALwO by generat...

Background: Deregulation of oxidative stress and accumulation of reactive oxygen species are metabolic factors that may affect tumor behavior. New recent insights revealed that the inner mitochondrial protein Nicotinamide Nucleotide Transidrogenase (NNT) is essential in the antioxidant defense mechanisms in the adrenal cortex. Studies have shown that long non-coding RNAs (lncRNAs) are important in cancer regulation. Recent studies demonstrated that lncRNA NNT-...