Searchable abstracts of presentations at key conferences in endocrinology

ea0020p582 | Neuroendocrinology, Pituitary and Behaviour | ECE2009

Immunoassay determination of macroprolactin in hyperprolactinemic patients: an interassay comparative study

Martinho Mariana , Martinho Teresa , Cunha Nuno , Curado Fatima , Gomes Leonor , Valido Frederico , Naidenov Plamen , Rodrigues Fernando

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...

ea0020p216 | Endocrine tumours and neoplasia | ECE2009

Insulinomas: experience of Coimbra’s University Hospital, Endocrinology Department

Santos Jacinta , Paiva Isabel , Martinho Mariana , Vieira Alexandra , Carvalheiro Manuela

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...

ea0081rc4.4 | Rapid Communications 4: Pituitary and Neuroendocrinology 1 | ECE2022

KLB gene mutations - a rare cause of hypogonadotropic hypogonadism

Cidade-Rodrigues Catarina , Chaves Catarina , Cunha Filipe , Martinho Mariana , Almeida Margarida

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...

ea0081ep158 | Calcium and Bone | ECE2022

Milk-alkali syndrome in a patient with chronic hypoparathyroidism

Cidade-Rodrigues Catarina , Chaves Catarina , Cunha Filipe , Martinho Mariana , Almeida Margarida

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...

ea0063ep125 | Reproductive Endocrinology | ECE2019

A rare case of hypergonadotrophic hypogonadism by 47,XXY/46,XX mosaic

Chaves Catarina , Cunha Filipe , Rangel Ricardo , Coelho Daniela , Vieira Margarida , Garrido Susana , Martinho Mariana , Almeida Margarida

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...

ea0022p835 | Thyroid | ECE2010

Hypothyroidism related to tyrosine kinase inhibitors: an underdiagnosed disorder?

Azevedo Teresa , Martinho Mariana , Martins Teresa , Dias Florbela , Cunha Nuno , Valido Frederico , Gervasio Helena , Rodrigues Fernando

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...

ea0022p836 | Thyroid | ECE2010

Procalcitonin: a promising role in medullary thyroid carcinoma?

Azevedo Teresa , Martinho Mariana , Martins Teresa , Cunha Nuno , Valido Frederico , Rodrigues Fernando

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...

ea0020p1 | Adrenal | ECE2009

Hematoma: unusual presentation of adrenal masses

Vieira Alexandra , Baptista Carla , Paiva Isabel , Barros Luisa , Santos Jacinta , Martinho Mariana , Carrilho Francisco , Carvalheiro Manuela

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...

ea0020p37 | Adrenal | ECE2009

Pheochromocytoma: a retrospective study on clinical presentation, management and outcomes

Martinho Mariana , Paiva Isabel , Carrilho Francisco , Fagulha Ana , Santos Jacinta , Vieira Alexandra , Rodrigues Fernando , Carvalheiro Manuela

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...

ea0020p173 | Endocrine tumours and neoplasia | ECE2009

Von-Hippel-Lindau disease: clinical report

Santos Jacinta , Paiva Isabel , Martinho Mariana , Vieira Alexandra , Vieira Diniz , Cunha Lurdes , Martinho Fernando , Carvalheiro Manuela

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...