Endocrine Abstracts

Prolactin is mainly found in the monomeric form although it can also occur in the big-PRL and bigbigPRL (bbPRL) form: a complex of prolactin and immunoglobulin G. The latter has reduced bioactivity despite maintaining its imunorreactivity. This can cause false positive results representing the main cause of interassay variability in prolactin measurement. It should therefore be considered in every study concerning hyperprolactinemia. We aimed to evaluate the prevalence of bbPR...

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...

Introduction: Congenital hypogonadotropic hypogonadism (CHH) is a rare disease. Mutations in various genes have been implicated in its pathophysiology, the most frequent being ANOS1, FGFR1 and GNRHR genes. FGFR1 is essential for cell proliferation, differentiation and migration during embryonic development and is involved in GnRH neuron development and maintenance. Klotho-beta protein (KLB) is expressed in the postnatal hypothalamus and is t...

Introduction: Milk-alkali syndrome is defined by the triad hypercalcemia, metabolic alkalosis and renal impairment, due to intake of calcium salts and absorbable alkali. It is the 3rd leading cause of hypercalcemia but often underdiagnosed. Patients with chronic hypoparathyroidism after total thyroidectomy have increased risk for this potentially life-threatening complication and its epidemiology is unclear. We present a case of milk-alkali syndrome in a patient with chronic h...

Introduction: Klinefelter syndrome (KS) represents the most common cause of hypergonadotrophic hypogonadism, with an estimated prevalence of 1:500 to 1:1000 men. This syndrome is characterized by the presence of an additional X chromosome. Eighty percent present with a 47,XXY karyotype and the remaining 20% present with a 47,XXY/46,XY mosaic or with multiple X chromosome aneuploidies, often with additional Y chromosomes. The presence of a 47,XXY/46,XX mosaic with male phenotyp...

Introduction: Tyrosine Kinase Inhibitors (TKIs) are approved for the treatment of several cancers and can induce hypothyroidism by unclarified mechanisms.Objectives: To assess the prevalence of hypothyroidism in patients treated with TKIs.Methods: Retrospective review of clinical records of patients treated with TKIs in our institution between 2003 and 2009. We evaluated parameters such as sex, oncologic pathology, TKI used, TSH an...

Introduction: Procalcitonin (PCT) is currently used as a sepsis marker. Studies have shown that this prohormone is elevated in patients with medullary thyroid carcinoma (MTC) and, additionally, that its assay could have less limitation than calcitonin (CT).Objective: To evaluate the concordance between the values of CT and PCT.Methods: CT, PCT and carcinoembryonic antigen (CEA) were measured in a total of 57 subjects. CEA and CT we...

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...

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...