Endocrine Abstracts

Background: Von-Hippel-Lindau disease (VHL) is a rare (1/36.000 newborns), autosomal, dominant inherited tumour syndrome. A germline mutation in VHL tumour suppressor gene predisposes carriers to tumours in multiple organs. In the presence of positive family history, it can be diagnosed clinically in a patient with at least one typical VHL tumour.Clinical report: In December 2007, a 34 years-old women presented with palpitations and tachycardia, but norm...

Introduction: Papillary thyroid carcinoma (PTC) and medullary thyroid carcinoma (MTC) are distinct neoplasms, associated with different histological findings. Their coexistence in the same patient is a rare event, requiring a different clinical approach.Clinical case: A 72-year-old patient with no family history of thyroid disease, underwent total thyroidectomy in February 2019, due to toxic multinodular goitre, with no evidence of postoperative complica...

Background: Insulinomas are rare neuroendocrine tumours (4 cases/million patients per year), representing an important cause of hyperinsulinemia. Usually are benign and sporadic, but can be part of multiple endocrine neoplasias. To establish the diagnosis it is essential to document inappropriately high levels of insulin during episodes of hypoglycaemia.Aim: Retrospective analysis of the clinical files of the patients followed in our department since Jan...

Background: Hypercalcaemia due to primary hyperparathyroidism is a rare cause of acute pancreatitis, with a reported prevalence of 1.5–8%.Clinical case: A 25-year-old male patient was referred to the Endocrinology outpatient clinic for hypercalcemia diagnosed in the context of acute pancreatitis. He had medical and surgical pathological antecedents of: clavicle fracture after car accident, cholecystectomy and appendectomy, gastroesophageal reflux di...

Nonadherence to levothyroxine therapy is one cause of persistent hypothyroidism. To distinguish nonadherence from malabsorption, a levothyroxine absorption test (LAT) is sometimes required. The authors report a case of a 60-year-old female patient suffering from hypothyroidism resistant to oral levothyroxine (LT4) substitution after radioiodine therapy for Graves’ disease. Despite the continuous increases of LT4, over 10 years, to a maximum of 1 mg/d...

Introduction: Adrenocortical carcinoma (ACC) is a rare disease, with a severely adverse prognosis. Clinical reports, even when including a limited number of cases, can contribute to its knowledge. This study aims to characterize patients followed at our department between 1991 and 2013.Methods: Retrospective analysis of the clinical records of patients with pathological confirmation of ACC. Statistical analysis: SPSS21.Results: 22 ...

Introduction: Primary hyperparathyroidism (PHP) results from an excessive secretion of parathyroid hormone (PTH), typically leading to hypercalcaemia. This disorder is more common than previously expected, since it is frequently diagnosed in asymptomatic patients.Objectives: To characterize a group of patients with PHP, in what concerns to: age, clinical presentation, biochemical and imaging evaluation, treatment and evolution.Pati...

Introduction: Primary hyperparathyroidism (PHPT) is the most common cause of hypercalcaemia in the outpatient setting. Surgical remove of an adenoma or hyperplastic glands results in cure, but an accurate localization, preoperative whenever possible, is essential for success. Taking into consideration that parathyroid carcinoma is a rare event, FNA of parathyroid glands, complemented by PTH measurement in washouts (FNA/PTH), may be a useful tool in the diagnostic workout.<...

Introduction: Adrenal hematomas are very rare entities. They occur often associated with: trauma, anticoagulation, coagulopathy, septicemia, pregnancy complications or tumors. When none of these predisposing factors is present, diagnosis and treatment can become a real challenge.Case report: A 19-years-old woman presented with complaints of asteny, loss of appetite, loss of 10 kg in a month, and pain in right lumbar and abdominal regions. No other compla...

Pheochromocytomas are rare, catecholamine-secreting, adrenal neoplasms. In about 25% of cases they arise in patients with germline mutations. Malignancy occurs in about 10%.We retrospectively analysed the records of patients with histological diagnosis of pheochromocytoma submitted to adrenal surgery between 1987–2008 and followed in the Endocrinology department.Thirteen patients were included. We evaluated age on diagnosis; c...