Endocrine Abstracts

Introduction: Clinically non-functioning pituitary tumors (NFPTs) lack clinical or biochemical evidence of pituitary hormone excess. Their clinical presentation is heterogeneous, including mass effect-related symptoms and/or hypopituitarism, or even no symptoms in incidentally-detected NFPTs. We aimed to evaluate the clinical presentation spectrum of NFPTs in a cohort of patients managed at our hospital.Methods: Clinical, demographic, biochemical and ima...

Introduction: The 22q11.2 deletion syndrome or DiGeorge syndrome (DGS) is rare and the diagnosis in adults is uncommon. The phenotype is highly heterogeneous and of variable severity, including hypoparathyroidism and epilepsy.Case Report: A 26-year-old man was admitted in the emergency room for inaugural tonic-clonic seizure. He had history of cognitive impairment and learning difficulties. Neurologic examination, brain CT and basic analysis were irrelev...

Introduction: Multiple endocrine neoplasia type 1 syndrome (MEN1) is a hereditary autosomal dominant disorder caused by germline mutations in the MEN1 tumour-suppressor gene and is typically characterized by parathyroid adenomas, duodenopancreatic neuroendocrine tumors (NETs) and pituitary adenomas. Breast cancer has recently been identified as manifestation of MEN1 and female patients have early onset elevated breast cancer risk.Case report: Female pati...

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is associated with an increased cardiometabolic risk in adult life. Nevertheless, data regarding pediatric age is scarce. We aimed to evaluate cardiometabolic risk factors in patients with CAH due to 21-hydroxylase deficiency in pediatric age.Methods: We reviewed the clinical records of patients with CAH evaluated in a Pediatric Endocrinology Unit in a central hospital. Pat...

Introduction: Thyroid amyloidosis is defined as amyloid protein and fat deposition within the thyroid gland. It is classified as either primary (idiopathic) or secondary to inflammatory/chronic disease. Albeit deposition of amyloid protein in thyroid tissue is frequent, amyloidosis affecting exclusively the thyroid gland without evidence of other organs involved is extremely rare. We report a clinical case of a patient who underwent lobectomy due to a toxic adenoma, whose hist...

Introduction: Fine needle aspiration cytology (FNA) is the most accurate diagnostic method for thyroid malignant nodule diagnosis. According to the literature, the percentage of false negative results (FN-FNA) is less than 1.5%, in tertiary health care centers.In this study we describe the cases reported in this Hospital, between 2014 and 2016, of benign cytology, histologically characterized as malignant. All pathologic specimens were reviewed.<p cl...

Introduction: Pituitary adenomas represent 95% of all sellar masses. Spindle cell oncocytoma (SCO), a rare histopathological entity (0.4% of all sellar tumours), clinically presents as a non-functional pituitary adenoma. According to WHO 2016 Classification of Tumours of the CNS it is a Grade l tumour, but prognosis remains uncertain since recurrence is frequently seen among the few cases reported.Clinical case: A 59 year-old man presented with progressi...

Introduction: Regional lymph node (LN) metastases have prognostic significance in differentiated thyroid cancer (DTC). Several studies demonstrated that lateral neck LN metastasis, classified as N1b, have a greater impact on overall survival than central LN metastasis. Our study aimed to assess the risk of N1a vs N1b involvement on outcome in patients with differentiated thyroid cancer (DTC), according to the 7th edition of the TNM staging system.Methods...

Introduction: Hormonal replacement therapy (HRT) increases bone mineral density (BMD). Controversy exists regarding residual effect after withdrawal. We aimed to explore the effect of HRT and HRT withdrawal on: i) BMD and bone microarchitecture assessed by trabecular bone score (TBS); ii) fat (FMI), lean (LMI) and appendicular lean (ALMI) mass indexes.Methods: The OsteoLaus Cohort assessed 1500 women (50–80 years) for BMD, TBS, total energy expendit...

Background: The review of the Bethesda System Classification has brought some challenge to the clinical role of category III lesions. Repeating fine-needle aspiration (FNA) is time-consuming, painful, brings additional cost and sometimes does not change the clinical decision. Our aim was to prove if there is true benefit in repeating FNA.Methods: Retrospective review of 4549 thyroid FNAs between January 2012 and June 2015, from which 671 classified as AU...