Searchable abstracts of presentations at key conferences in endocrinology

ea0099ep1228 | Late Breaking | ECE2024

Primary bilateral macronodular adrenal hyperplasia caused by a novel variant in the ARMC5 gene

Lopes-Pinto Mariana , M Travessa Andre , Paula Ricca Lacerda Nobre M Caetano Ema , Paula Barbosa Ana

Introduction: Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) represents <2% of all causes of Cushing’s Syndrome (CS). Clinical course is insidious, with adrenal bilateral macronodules and gradual cortisol excess, only rarely presenting with overt CS. The pathophysiology remains unclear in most cases; however, pathogenic variants in the onco-supressor ARMC5 gene are described in 25-50% of PBMAH and may confer a more severe clinical course. <p class="abs...

ea0081p137 | Environmental Endocrinology | ECE2022

Di-butyl phthalate exposure in a human adrenocortical cell line impairs steroid hormone synthesis

Kallsten Liselott , Pierozan Paula , W Martin Jonathan , Karlsson Oskar

Phthalates are man-made chemicals that are used in many different types of products. The main use is as plasticizers, but they can also be added to, for example, cosmetics, drug coatings, and perfumes. One of the most commonly used phthalates is di-butyl phthalate (DBP), which has been detected in both food and drinking water globally. Once ingested, DBP is rapidly metabolized to its main metabolite, mono-butyl phthalate (MBP), which is frequently detected in human plasma and ...

ea0081ep602 | Endocrine-Related Cancer | ECE2022

Ectopic Cushing's syndrome due to metastatic lung carcinoid presenting on a background of DIPNECH

Moreno Telma , Ribeiro Sara , Varela Ana , Freitas Paula , Carvalho Davide

Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is a relatively recent and rare disease, frequently misdiagnosed. It is characterized as a generalized proliferation of pulmonary neuroendocrine cells and is recognized as a precursor lesion for pulmonary neuroendocrine tumors, although the risk of progression to malignancy is considered low. Here we report a patient with ectopic ACTH-dependent Cushing’s syndrome due to metastatic lung carcinoid tumors...

ea0090p784 | Thyroid | ECE2023

Methimazole induced agranulocytosis - A clinical case report

Menino Joao , Meira Ines , Pedro Jorge , Carvalho Davide , Freitas Paula

Introduction: Antithyroid drugs (ATDs) are generally safe and well tolerated, however, major side effects such as hepatotoxicity and agranulocytosis may occur and patients should be provided information on the major symptoms of these conditions. Although rare, agranulocytosis appears to be more likely with propylthiouracil (PTU) at any dose than with low-dose Methimazole (MMI). Clinical Case: We describe the case of a 70-year-old woman referred to Endocr...

ea0090ep809 | Pituitary and Neuroendocrinology | ECE2023

The importance of Prompt Treatment of Ectopic Cushing Syndrome

Meira Ines , Menino Joao , Pedro Jorge , Carvalho Davide , Freitas Paula

Introduction: Ectopic ACTH production accounts for up to 20 percent of ACTH-dependent Cushing syndrome (CS). Small cell carcinoma and carcinoid of the lung represents half of its cases. These patients lack some of the more obvious clinical features of cortisol excess. Therefore, this can cause a delay in the diagnosis of CS and these patients may be at high risk of life-threatening complications such as infections or thrombosis.Clinical case: Case of a 7...

ea0063p6 | Adrenal and Neuroendocrine Tumours 1 | ECE2019

Adrenal insufficiency secondary to bilateral adrenal diffuse large B-cell lymphoma: a case report

Garcia Maria Laura , Speroni Romina , Lisdero Ana Paula

Introduction: Primary adrenal lymphoma is extremely rare. It accounts for <1% of extranodal lymphoma. It affects typically old males with bilateral adrenal gland involvement that leads to adrenal hypofunction. Prognosis is very poor due to the lack of optimum chemotherapeutic regimens.Case Report: A 71 yearr old man with prior history of non insulin dependent diabetes, was admitted to the emergency department with symptoms of progressive weakness, fa...

ea0063p876 | Adrenal and Neuroendocrine Tumours 3 | ECE2019

An interesting case of a familial insulinoma

McCarthy Aisling , Newman Christine , O'Keeffe Derek , O'Shea Paula , Bell Marcia

A 42 year old lady presented to the Endocrinology clinic with a longstanding history of exertional dizziness, increasing in frequency over the preceding two months. She reported marginal symptomatic improvement with the introduction of frequent carbohydrate rich meals. She was asymptomatic in the post-prandial period. She had no associated nausea, confusion, palpitations, diaphoresis, collapse or weight gain. She was on medication (SSRI) for anxiety. Her father and paternal gr...

ea0049ep129 | Clinical case reports - Pituitary/Adrenal | ECE2017

Aldosterone-producing adrenocortical carcinoma and alteration of secretion pattern on recurrence: a case report

Ferreira Joana Lima , Marques Ana Paula , Sottomayor Carlos , Valente Vitor

Introduction: Adrenocortical carcinoma (ACC) is a rare neoplasm with a variable but overall poor prognosis. The presentation is heterogeneous usually with mass effect and less often with evidence of hormonal secretion. About half of cases the tumors are hormonally active most commonly with cortisol secretion followed by sexual hormones production, being rare the aldosterone secretion.Case report: A 41-year-old male presented with hypertensive crisis and ...

ea0049ep198 | Neuroendocrinology | ECE2017

Von Hippel–Lindau syndrome: in vivo portrait with 68Ga-DOTANOC PET-CT

Paula Moreira Ana , Costa Gracinda , Pedroso de Lima Joao

Introduction: Von Hippel–Lindau syndrome (VHL) is an autosomal dominantly inherited neoplastic disorder with marked phenotypic variability, characterized by a broad spectrum of clinical manifestations in central nervous system (CNS) and viscera. Specific gene mutation can be demonstrated; however imaging plays an important role in diagnosis. 68Ga-labelled somatostatin analog (68Ga-DOTANOC) PET-CT is routinely employed for somatostatin receptor (SSTR) imaging, mainly for n...

ea0041ep864 | Pituitary - Basic | ECE2016

Circadian clock expression in anterior pituitary gland is altered in different thyroid conditions

Bargi-Souza Paula , Peliciari-Garcia Rodrigo A. , Nunes Maria Tereza

The hypo and hyperthyroidism alter the synthesis/secretion of pituitary hormones, which in normal conditions present fluctuations in serum concentration during the 24h period. An intrinsic pituitary circadian clock might be related to these oscillations; however, the possible interaction between thyroid hormonal conditions and circadian clock gene expression in anterior pituitary is still unknown. The purpose of this study was to investigate the expression of core circadian cl...