Searchable abstracts of presentations at key conferences in endocrinology

ea0037ep775 | Pituitary: clinical | ECE2015

Congenital pituitary stalk interruption syndrome with isolated GH and TSH deficiency and Rathke's cleft cyst: an incidental association

Wessling Ana , Paixao Raquel , Aragues Jose Maria , Mascarenhas Mario

Introduction: Congenital pituitary stalk interruption syndrome (PSIS) is a rare condition, characterized by the triad (not always complete): absence/hypoplasia of the pituitary stalk, hypoplasia/aplasia of the anterior pituitary and absence or ectopy of the posterior pituitary high signal intensity, on magnetic resonance imaging (MRI). PSIS implies a permanent GH deficiency, in 77% associated with other pituitary hormones deficiencies. The aetiology remains uncertain, but some...

ea0035p350 | Diabetes (epidemiology, pathophysiology) | ECE2014

Clinical case of type 1 diabetes mellitus and multiple sclerosis – just bad luck?

Wessling Ana , Aragues Jose Maria , Guerra Silvia , Mascarenhas Mario

Introduction: Type 1 diabetes mellitus (T1DM) and multiple sclerosis (MS) are organ-specific autoimmune diseases. Their association, first described in a study in Sardinia, left questions about their clustering, clarified by the Familial Autoimmune and Diabetes Study, which showed for the first time an highly increased prevalence of MS in adults with T1DM, reinforced by further epidemiological studies that also revealed increased risk of T1DM in MS patients.<p class="abste...

ea0063p1219 | Thyroid 3 | ECE2019

Primary thyroid angiosarcoma – a case report

Bala Nadia Mourinho , Aragues Jose Maria , Guerra Silvia , Roque Rita , Madureira Rosa , Valadas Cristina

Introduction: Primary thyroid angiosarcoma (TAS) is a rare malignancy that arises from endothelial cells, and nearly all reported cases originate from the Alpine region of central Europe. Most of the patients are female, elderly, with a history of goiter. Generally, TAS arises as a painless infiltrating mass and patients present with compression symptoms due to the brisk tumor growth. Other TAS clinical presentations are varied and highly non-specific. Metastasis occur early i...

ea0041ep141 | Calcium and Vitamin D metabolism | ECE2016

Idiopathic infantile hypercalcemia: presenting in childhood, diagnosed in adulthood – case report

Silvestre Catarina , Paixao Raquel , Aragues Jose Maria , Guerra Silvia , Mascarenhas Mario

Introduction: Hypercalcemia can be caused by a variety of pathologies/factors. Vitamin D plays a central role in calcium homeostasis, where a tight control of its metabolism is necessary. Inadequate 24-hydroxylase-enzime (CYP24A1) activity leads to failure of 25-hydroxyvitamin and 1,25-dihydroxy-vitamin D3 inactivation, resulting in hypercalcemia.Case report: An asymptomatic, 22-year-old woman was admitted in an Endocrinology appointment for evaluation o...

ea0056p685 | Thyroid cancer | ECE2018

Late diagnosis of type 2B multiple endocrine neoplasia (MEN 2B) in a 24-year-old patient

Castor Raquel Vaz de , Aragues Jose Maria , Ferreira Florbela , Bugalho Maria Joao

We present the case of a 24-year-old melanodermic male patient from Angola referred to the Endocrinology department of a central hospital, in Lisbon, Portugal. He presented skeletal deformities and joint laxity, and numerous mucosal neuromas of the oral cavity since early childhood. Recurrent diarrhea was also reported but elevated blood pressure was not observed at that time. Multinodular goiter (nodules>40 mm) was identified in physical examination and microcalcification...

ea0049ep1204 | Clinical case reports - Thyroid/Others | ECE2017

Isolated ocular Miasthenia Gravis and Graves’ disease – a challenging ophtalmopathy

de Castro Raquel Vaz , Aragues Jose Maria , Ferreira Florbela , Gomes Vania , Wessling Ana , Fonseca Ana Claudia , Conceicao Isabel , Bugalho Maria Joao

We report the case of a Caucasian woman presenting with a challenging differential diagnosis of ophtalmopathy. The patient was diagnosed with Graves’ disease during postpartum at the age of 28 (TSH<0.001 U/ml; FT3 6.7 ng/dl; FT4 2.2 ng/dl; TSAb 15 U/l). Besides 16 pack-year smoking history, no other previous disease was known. At examination, exophthalmos grade I/III with bilateral lid retraction was evident. Persistency of the disease despite optimal use of medical a...

ea0037ep675 | Pituitary: basic and neuroendocrinology | ECE2015

Inferior petrosal sinus sampling in ACTH-dependent Cushing's syndrome: experience of a Tertiary Portuguese Hospital

Gomes Ana Coelho , Neto Lia Lucas , Carvalho Maria Raquel , Barreiros Eduardo , Aragues Jose Maria , Barreiros Luis , Campos Jorge , Mascarenhas Mario Rui

Introduction: Cushing’s disease (CD) is responsible for 80% of endogenous Cushing’s syndrome (CS). However, distinguishing the cause of ACTH-dependent CS – CD vs ectopic CS – can be extremely difficult. Bilateral inferior petrosal sinus sampling (IPSS) has the highest diagnostic accuracy in this evaluation.Objectives: The aims of this study were to determine the accuracy of bilateral IPSS in the differential diagnosis of ACTH-dependen...