IMPE Abstracts

Introduction: Graves’ disease (GD) is an immune-mediated thyrotoxicosis characterized by hypertrophy and hyperplasia of the thyroid follicles and accounts for 50-80% of all cases of pediatric hyperthyroidism. Thyroid nodularity is a common feature of GD, with an estimated prevalence of 25% – 53%. Thyroid nodules are less common among children than adults, being 20% malignant. The presence of GD and toxic nodular goiter is a rare finding, known as M...

In pediatrics, thyroid tumor stratification is difficult to assess. Epithelial-mesenchymal transition (EMT), plays a role in tumor development. In human carcinomas Brachyury (Brachy) has been identified as a regulator of EMT associated to malignancy. The Insulin Like Growth Factors (IGFs) are mitogens that play important roles in both normal and neoplastic growth. To date, no information about Brachy and IGF1R expression in pediatric thyroid nodular disease is available.<p...

Introduction: Most paediatric rare diseases have an underlying genetic cause but making a molecular diagnosis is often still a challenge. The incorporation of Next Generation Sequencing (NGS) technologies into research and clinical workflows has improved the diagnosis of these disorders.Objective: To evaluate the process of NGS implementation for the diagnosis of genetic endocrine diseases in a tertiary public paediatric...