Endocrine Abstracts

Introduction: Biochemical testing for Paraganglioma/Pheochromocytoma (PGL/PHEO) is recommended in patients with classical symptoms, in those harbouring an adrenal incidentaloma and in patients who have a hereditary risk for developing a PGL/PHEO. Measurements of plasma free metanephrines and/or urinary fractionated metanephrines provide a highly sensitive test for diagnosis but false-positive results remain a problem.Aim: Comparative analysis of plasma a...

Introduction: RET germline mutation in codon 634 of exon 11 is one of the most frequent mutations of classical multiple endocrine neoplasia type 2A (MEN2A). Virtually all patients with classical MEN2A develop medullary thyroid carcinoma (MTC), which is often the first manifestation of the disease and usually occurs early in life. Pheochromocytomas (PHEOs) tend to be diagnosed several years later or simultaneously with the MTC.Case report: The pa...

Introduction: Primary hyperparathyroidism is the most common cause of hypercalcemia in the outpatient setting, and a single parathyroid adenoma is usually the culprit. Clinical presentation is commonly dictated by hypercalcemia. Symptoms can range from mild non-specific malaise and gastrointestinal disturbances, through bone disease, kidney stones, cardiovascular and neuromuscular dysfunction to, ultimately, coma and death. However, the vast majority of patien...

Introduction: Parathyroid hyperplasia is the second cause of primary hyperparathyroidism (PH), representing 15–20% of all cases. The scintigraphy with Tc-99m-Sestamibi is a preoperative exam used to identify parathyroid adenomas or hyperplasia. It has a sensibility of 50–90%, which increases with larger parathyroid size. The neck ultrasonography (US) has also an important role detecting parathyroid enlarged glands with 70% sensibility. We report a case of parathyroid...

Introduction: Hemangioblastomas (HBL) in the pituitary stalk are extremely rare. Most pituitary stalk HBL reported in the literature were associated with von Hippel–Lindau (VHL) disease.Case report: We report the case of a 34-year-old female patient with VHL disease diagnosed at the age of 18 with multiple complications (bilateral retinal and cerebellum HBL, renal cell carcinoma). Brain magnetic resonance imaging (MRI) demonstrated an hypointense su...

Introduction: CHARGE Syndrome (CS) is a rare cause of hypogonadotropic hypogonadism (HH), usually diagnosed in paediatric age when pubertal development is compromised. Herein, we report a case that presented a major criterion and three minor criteria.Case report: At age ten, the patient was referred to the paediatric endocrinology unit due to phenotypic alterations and psychomotor and cognitive impairment. She had no family history of consanguinity, inhe...

Postpartum thyroid dysfunction occurs in 5–10% of women in the general population within one year of delivery. The prevalence of postpartum Graves’ disease is estimated at 0.54%. Postpartum thyroiditis is much more common. Differential diagnosis is essential for an adequate treatment. Radioactive iodine uptake can be useful to establish the etiologic diagnosis, but is contraindicated during lactation. Elevated titers of antithyrotropin receptor antibodies (TRAbs) are...

Introduction: Hypothyroidism can affect the nervous system, commonly causing mono and polyneuropathies which show a variable frequency and pattern. Its mechanisms are not fully understood. Symptoms usually correlate better with the duration of the dysfunction rather than with its severity and typically improve significantly after medical therapy.Case report: A 58-year-old woman was admitted at our hospital with a one-year history of progressive weakness ...

Background: Calcitonin is a hormone secreted by thyroid C cells, and is considered an excellent marker for medullary thyroid carcinoma (MTC). However, the use of calcitonin to screen patients with nodular thyroid disease (NTD) remains controversial.Objective: Defining the frequency of hypercalcitoninemia among NTD patients followed at a tertiary referral hospital.Methods: Retrospective analysis of basal calcitonin measurements and ...

Introduction: Identification of molecular markers with a reliable prognostic value may greatly improve the management of patients with papillary thyroid carcinoma (PTC). Rac1b, a hyperactive splice variant of the small GTPase Rac1, was found to be overexpressed in colorectal, breast and lung cancer. It has been shown to sustain tumor cell survival in colorectal cancer and was reported to have a key role in the malignant progression of breast and lung tumors. The Rac1b tumorige...