Endocrine Abstracts

Introduction: Parathyroidectomy is the only curative treatment for primary hyperparathyroidism (pHPT) and has been traditionally performed through bilateral neck exploration (BNE). However, with the use of intraoperative parathyroid hormone (IOPTH) assay along with preoperative localization exams, minimally invasive surgery can be performed with good surgical success rate.Aim: To evaluate the usefulness of IOPTH assay in guiding adequate parathyroidectom...

Introduction: Riedel’s thyroiditis (RT) is a rare chronic inflammatory disease characterized by a dense fibrosis that replaces normal thyroid parenchyma. The most common manifestation is a stony hard thyroid mass, commonly associated with compressive symptoms. Histological confirmation is essential for diagnosis and the main differential diagnosis is the anaplastic thyroid cancer. The management is challenging and there is no agreed standard treatment, since only a few ca...

Introduction: By Next Generation Sequencing (NGS) our team identified in two families presenting a phenotype compatible with familial non-medullary thyroid carcinoma (Family C and Family R), two new potentially pathogenic germline mutations. Family C presented p.Gly106Arg mutation in the KCNB2 gene, that codifies a voltage-gated potassium channel (vgKCN). Since potassium efflux by the cell is a necessary condition for cellular homeostasis, vgKCN disruption can impact the funct...