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: Cyclic Cushing’s Syndrome is an uncommon disorder characterized by recurrent episodes of elevated cortisol levels, alternating with periods of normal cortisol secretion. These cycles of hypercortisolism can occur at regular or irregular intervals, ranging from days to years between episodes.Case presentation: A 57-year-old woman evaluated at the Endocrinology Outpatient Clinic because of symptoms of hypercortisolism with 18 months of e...

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: Pituitary metastases are rare, accounting for only 1% of intracranial metastases and predominantly originating from breast and lung tumors. Pituitary involvement is observed in only 6–8% of breast cancer cases, with an overall unfavorable prognosis.Case series: A 53-year-old woman, with a six-year history of breast cancer metastasized to the lungs, presented with a three-month history of headaches, visual disturbances, asthenia, weight...

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...

Introduction: Proinsulinoma is an infrequent subtype of pancreatic neuroendocrine tumor (pNET), characterized by the excessive secretion of proinsulin, leading to pronounced hypoglycemia. Clinical manifestations comprise neuroglycopenic and autonomic symptoms, including cognitive impairment, seizures, visual disturbances, diaphoresis, tremors, syncope or coma. Diagnostic modalities involve blood assays and imaging to detect heightened proinsulin production and determine the tu...