Searchable abstracts of presentations at key conferences in endocrinology

ea0020p157 | Thyroid | ECE2009

Bronchiectasis as a false-positive on Iodine-131 scintigraphy in thyroid papillary carcinoma- three case reports

Martins Anabela , Rosario Francisco , Garrao Antonio , Quaresma Pedro , Ferreira Teresa , Santos Rita , Bugalho Maria , Leite Valeriano

Introduction: After treatment with Iodine-131(I-131) in differentiated thyroid cancer, a diagnostic scintigraphy is performed. We selected three cases in which bronchiectasis appear as a false-positive on the scintigraphy after treatment with I-131.Case reports: Three women, respectively 62, 64 and 65 years old, being followed in the Endocrinology Department of our Institute, with the diagnosis of papillary carcinoma of the thyroid, were submitted to I-1...

ea0020p158 | Thyroid | ECE2009

Combined doxorubicin and hyperfracionated radiation therapy of anaplastic thyroid carcinoma: case report

Martins Anabela , Rosario Francisco , Trindade Candida , Santos Rita , Bugalho Maria , Leite Valeriano

Introduction: Anaplastic thyroid carcinoma, either by its low frequency, or by its poor prognosis, is still as a therapeutic challenge. One of the options available is the combined chemoradiation therapy, the basis of the following case.Case report: Male patient, 76 years old, with a history of neck swelling for 4 months. The cervical ultrasound showed a nodule in the right lobe of the thyroid with 7 by 5 cm and the cytology revealed follicular tumor. Su...

ea0014oc4.3 | Neuroendocriology basis | ECE2007

Absence of germline AIP mutations in early onset sporadic somatotropinomas

Gomes Leonor , Prazeres Hugo , Paiva Isabel , Ribeiro Cristina , Rebelo Olinda , Martins Teresa , Lacerda Manuela , Carvalheiro Manuela

Objective: The pathogenesis of pituitary tumours is still incompletely understood. Somatotropinomas occur both sporadically and in the context of familial syndromes, such as multiple endocrine neoplasia type 1 (MEN1), Carney complex (CNC) and isolated familial somatotropinoma (IFS). Recently, germline mutations were reported in AIP (aryl hydrocarbon receptor interacting protein) gene in Finish and Italian families and in Finish patients with apparently sporadic pituitar...

ea0014oc12.4 | Diabetes | ECE2007

Polymorphisms of PSMA6 gene and its adjacent genomic sites and their association with type II diabetes mellitus in the Latvian population

Poudziunas Ilva , Sjakste Tatjana , Kalis Martins , Lagzdins Maris , Pirags Valdis , Sjakste Nikolajs , Sokolovska Jelizaveta

Introduction: A possible involvement of proteasomes in the pathogenesis of type II diabetes mellitus has been recently reported. Therefore, association of polymorphism of proteosomal genes with type II diabetes mellitus is of particular interest. In this study, molecular markers of the proteasomal alpha subunit 6 gene PSMA6 and its adjacent genomic sites have been analyzed.The goal of this study was to characterize polymorphisms of the HSMS801, HSMS702, ...

ea0011p130 | Clinical case reports | ECE2006

Adult-onset nesidioblastosis- a rare clinical case

Martins T , Gomes L , Guimarães J , Melo M , Carvalheiro M

Introduction: Nesidioblastosis is a rare but well recognized disorder of persistent hyperinsulinemic hypoglycemia in infancy, but adult-onset nesidioblastosis associated with hyperinsulinemic hypoglycemia, termed noninsulinoma pancreatogenous hypoglycemia syndrome (NIPHS) has also been reported. These patients experience predominantly postprandial hypoglycaemia instead of fasting hypoglycaemia that characterizes insulinoma. Histological findings are islet hypertrophy islet-cel...

ea0056gp124 | Endocrine Case Reports | ECE2018

MODY – a diagnosis to be considered in diabetes

Matta-Coelho Claudia , Alves Marta , Marques Olinda , Antunes Ana , Martins Sofia

Introduction: Maturity-Onset Diabetes of the Young (MODY) is a form of monogenic diabetes caused by mutations in islet-related genes characterized by early-onset and inheritance in an autosomal dominant manner. MODY accounts for 2 to 5% of all cases of diabetes. The clinical presentation is heterogenous. Our aim was to characterize clinical features of patients with MODY in our department.Methods: We retrospectively analysed MODY diabetes cases diagnosed...

ea0073pep2.1 | Presented ePosters 2: Diabetes, Obesity, Metabolism and Nutrition | ECE2021

MODY 5: a rare cause of diabetes and chronic kidney disease – a report of 10 cases

Amaral Sara , Cláudia Martins Ana , Palha Ana , Bogalho Paula , Agapito Ana , Silva-Nunes Jose

IntroductionMaturity Onset Diabetes of the Young (MODY) affects 1–2% of diabetic patients. Subtype 5 (HNF1β mutation) is rare (~1% of all MODY subtypes) and extra-pancreatic manifestations are often present (chronic kidney disease (CKD), liver disease and/or genitourinary malformations).AimTo report and review confirmed MODY 5 cases in an Endocrinology Department.Meth...

ea0073aep673 | Thyroid | ECE2021

Graves’ disease with spontaneous resolution following ocrelizumab in primary progressive multiple sclerosis

Borges Duarte Diana , da Silva Ana Martins , Freitas Claudia , Cardoso1 Maria Helena

Introduction Immune reconstitution therapies (IRT), which include antibody-based cell-depleting therapies targeting CD52+ (alemtuzumab) or CD20+ (rituximab, ocrelizumab) leukocytes, are approved for the treatment of multiple sclerosis. Thyroid autoimmunity is a common adverse effect of alemtuzumab treatment, Graves' disease being the most prevalent manifestation. To date, thyroid autoimmunity events have not been reported with CD20 targeting monoclonal a...

ea0095p71 | Pituitary and Growth 1 | BSPED2023

The oxytocin system in craniopharyngioma: A systematic review

Mann Amy , Kalitsi Jennifer , Jani Khushali , Martins Daniel , Kapoor Ritika R , Paloyelis Yannis

Background: Craniopharyngioma is a benign tumour involving the hypothalamic and pituitary regions that are involved in the production and secretion of oxytocin. Research has shown that dysfunction of the oxytocin system is associated with neurobehavioural and metabolic outcomes, but less is known for its role in patients with craniopharyngioma, largely due to varied study designs and heterogenous methods of assessing the oxytocin system. This systematic review...

ea0099ep889 | Pituitary and Neuroendocrinology | ECE2024

Cyclic cushing’s syndrome: understanding the patterns of a complex endocrine disorder

Tavares da Silva Beatriz , Martins Fernandes Andreia , Almeida Raquel , Teresa Pereira Maria , Amaral Claudia

Introduction: Cyclic Cushing’s Syndrome is an uncommon disorder characterized by recurrent episodes of elevated cortisol levels, alternating with periods of normal cortisol secretion. These cycles of hypercortisolism can occur at regular or irregular intervals, ranging from days to years between episodes.Case presentation: A 57-year-old woman evaluated at the Endocrinology Outpatient Clinic because of symptoms of hypercortisolism with 18 months of e...