Searchable abstracts of presentations at key conferences in endocrinology

ea0032p273 | Clinical case reports - Thyroid / Others | ECE2013

Familial Graves’ disease: case report

Mota Ana , Martins Joao , Vale Sonia , Martins Ana , Gomes Ana , Miltenberger-Miltenyi Gabriel , Carmo Isabel

Introduction: Graves’ disease is an autoimmune condition with an estimated prevalence of about 2%, 5–10 times more frequent in females. A multifactorial nature is assumed, with genetic contribution accounting for up to 80% of the variability. Relevant genes includegeneral autoimmune risk loci, such as the HLA region, CTLA-4, PTPN22 and CD40, as well as thyroid-specific loci (thyroglobulin and TSH receptor genes). We report a particular case of Graves’ d...

ea0049ep243 | Bone & Osteoporosis | ECE2017

Impact of vitamin D on the bone quality assessed by trabecular bone score in men

Mascarenhas Mario Rui , Barbosa Ana Paula , Duarte Nuno , Wessling Ana , Gomes Ana Raquel Coelho , Faria Carolina , Paixao Raquel , Barbosa David , Silvestre Catarina , Poupino Jose , Gomes Vania , Osorio Ana Sofia , Sampaio Francisco , Monteiro Jacinto , Hans Didier , Bicho Manuel , Bugalho Maria Joao

Trabecular bone score (TBS) is a recent noninvasive analytical method, based upon DXA images, related to bone microarchitecture or bone quality; together, TBS and DXA may evidence bone strength. Falls and osteoporotic fractures increase with ageing, while both BMD and vitamin D levels slowly decline. Data about the influence of vitamin D on the TBS are scarce.Aim: To evaluate the influence of the blood vitamin D levels on the TBS in normal men.<p cla...

ea0081p468 | Thyroid | ECE2022

From hyper to hypothyroidism: pitfalls in graves’ disease following DRESS syndrome

Ines Alexandre Maria , Queiros Catarina , Gomes Ana

Background: Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is an uncommon severe systemic hypersensitivity drug reaction. Several studies have described the occurrence of newly developed endocrine autoimmune diseases following DRESS syndrome resolution. However, little attention has been paid by endocrinologists to this disorder. Here, we report a case of a patient with Graves’ disease following DRESS syndrome.Clinical case: ...

ea0049ep119 | Clinical case reports - Pituitary/Adrenal | ECE2017

Adrenal haemorrhage: from Urology to Endocrinology

Silvestre Catarina , Gomes Ana , Carvalho Raquel , Bugalho Maria Joao

Background: Bilateral adrenal haemorrhage (Waterhouse–Friderichsen syndrome) is a rare consequence of sepsis (usually a result of meningococcal infection), with an estimated 15% mortality. Despite the predominant association with meningococcal infection, there are other recognised aetiologies: sepsis resulting from other organisms, and non-infectious causes, such as anticoagulant treatment, trauma and postoperative adrenal haemorrhage.Case report: A...

ea0032p239 | Clinical case reports – Pituitary/Adrenal | ECE2013

Functional and transient effect of sodium excretion in combined pituitary failure with central and peripheric diabetes insipidus

Gomes Ana , Martins Ana , Martins Joao , Vale Sonia , Carmo Isabel

Introduction: Central and Peripheral Diabetes Insipidus are both rare conditions. Combined they may result in serious hypernatremia and water deficit that may pose a therapeutic challenge.Case report: MHBCR, a caucasian female aged 52, was admitted to the Endocrine Department because of serious hypernatremia. A previous diagnosis of pituitary failure and central diabetes insipidus was established 4 years before, after pituitary surgery for a non-secretin...

ea0081p282 | Adrenal and Cardiovascular Endocrinology | ECE2022

Behavior of metastatic paragangliomas and pheocromocytomas: experience from a single center

Verissimo David , damasio ines , Gomes Ana , Simoes-Pereira Joana , Donato Sara , Leite Valeriano

Paragangliomas (PGL) and pheochromocytomas (PHEO) are rare neuroendocrine tumors with an estimated prevalence of 1:6500 and 1:2500, respectively. Although most PGL/PHEO are benign, approximately 10% of PHEOs and 15-35% of PGLs have metastatic disease, which it is main cause of death, with 6 years of median survival. Objective: To characterize the metastatic PHEOs and PGLs from a single center. Methods: Retrospective analysis of clinical records of patients with metastatic PHEO...

ea0081ep752 | Pituitary and Neuroendocrinology | ECE2022

Clinical presentation of non-functioning pituitary tumors: the experience at a tertiary care hospital in Portugal

Ines Alexandre Maria , Gomes Ana , Nobre Ema Lacerda , Marques Pedro , Bugalho Maria Joao

Introduction: Clinically non-functioning pituitary tumors (NFPTs) lack clinical or biochemical evidence of pituitary hormone excess. Their clinical presentation is heterogeneous, including mass effect-related symptoms and/or hypopituitarism, or even no symptoms in incidentally-detected NFPTs. We aimed to evaluate the clinical presentation spectrum of NFPTs in a cohort of patients managed at our hospital.Methods: Clinical, demographic, biochemical and ima...

ea0063p699 | Pituitary and Neuroendocrinology 2 | ECE2019

Hypogonadotropic hypogonadism in a male patient with glycogen storage disease type 1A

Alexandre Maria Ines , Gomes Ana Coelho , Oliveira Anabela , Bugalho Maria Joao

Introduction: The glycogen storage disease (GSD) is a rare disorder of carbohydrate metabolism resulting from the defective synthesis and utilization of glycogen. GSD-1a is a subtype of GSD caused by a deficiency in glucose-6-phosphatase activity, which leads to decreased conversion of glucose-6-phosphate to glucose. The dominant features at presentation are hypoglycemia and lactic acidemia. Long-term complications include blood glucose lability, lactic acidemia, short stature...

ea0063p859 | Adrenal and Neuroendocrine Tumours 3 | ECE2019

Phaeochromocytoma in pregnancy

Araujo Alexandra , Silvestre Catarina , Marcalo Jose , Gomes Ana Raquel , Carvalho Raquel

Phaeochromocytoma in pregnancy is an extremely rare condition. Early recognition can largely decrease maternal and fetal mortality rates. As symptoms of phaeochromocytoma are similar to those of other more common causes of hypertension during pregnancy, timely diagnosis is a challenge. There is no consensus in literature about the specific treatment nor about the optimal delivery timing or route. Case of a 32 years old woman with a single pregnancy of 30 weeks and 3 days admit...

ea0049ep157 | Endocrine tumours and neoplasia | ECE2017

Medullary thyroid carcinoma and pheochromocytoma in multiple endocrine neoplasia type 2A – a reversed order diagnosis

Gomes Ana Coelho , Silvestre Catarina , Marcalo Jose , Carvalho Maria Raquel , Bugalho Maria Joao

Introduction: RET germline mutation in codon 634 of exon 11 is one of the most frequent mutations of classical multiple endocrine neoplasia type 2A (MEN2A). Virtually all patients with classical MEN2A develop medullary thyroid carcinoma (MTC), which is often the first manifestation of the disease and usually occurs early in life. Pheochromocytomas (PHEOs) tend to be diagnosed several years later or simultaneously with the MTC.Case report: The pa...