Searchable abstracts of presentations at key conferences in endocrinology

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...

ea0029p1290 | Paediatric endocrinology | ICEECE2012

Noonan syndrome: short stature and pubertal delay

Alves M. , Barreiro J. , Heredia C. , Cabanas P. , Castro-Feijoo L. , Bastos M. , Carvalheiro M. , Pombo M.

Background: Noonan syndrome (NS) is a relatively common disease, clinically and genetically heterogeneous. It is characterized by facial dysmorphia, growth retardation, congenital heart disease, lymphatic dysplasia, among others. The diagnosis is clinical, according to van der Burgt criteria. In 61% of cases genetic mutations in the signaling pathway of RAS-MAPK are identified.Clinical case: BVM, male, NS suspected. At 3 years old sent to Pediatric Endoc...

ea0029p412 | Clinical case reports - Thyroid/Others | ICEECE2012

Pseudo malabsorption of levothyroxine

Alves M. , Rodrigues D. , Baptista C. , Ribeiro C. , Oliveira P. , Vieira A. , Gouveia S. , Saraiva J. , Moreno C. , Bastos M. , Carvalheiro M.

Background: Therapy with levothyroxine (L-T4) is essential in hypothyroidism treatment. The marked elevation of thyrotropin (TSH) in patients treated with appropriate doses of L-T4 is rare and can result from malabsorption, drug interaction or poor adherence. The non-adherence, omitted by the patient, is called pseudo malabsorption.Clinical report: ACCS, female, 30 years old, hospitalized for persistent...

ea0026p648 | Clinical case reports | ECE2011

How differentiated can a poorly differentiated thyroid cancer be? A rare case presenting with hyperthyroidism and secondary adrenal insufficiency

Melo M , Carrilho F , Ribeiro C , Carvalheiro M

Introduction: Poorly differentiated thyroid cancers are usually aggressive tumors that lack many of the characteristics of differentiated thyroid tissue, including the ability to uptake and process iodine.Case report: A 75-year-old male presented with weight loss, tiredness, asthenia, tremor, increased perspiration, tachycardia and bone pain in several locations. A hard and fixed thyroid nodule was palpable in the left lobe (FNA-«follicular tumor&#1...

ea0029p128 | Adrenal medulla | ICEECE2012

Pheochromocytoma in neurofibromatosis type 1

Moreno C. , Bastos M. , Ruas L. , Vieira A. , Alves M. , Gouveia S. , Saraiva J. , Carvalheiro M.

IntroductionNeurofibromatosis type 1 (NF-1) is a relatively frequent syndrome, with an estimated incidence of 1/3000 per year. Patients with NF-1 are at an approximately fourfold higher risk of developing tumors than the general population, most frequently gastrointestinal stromal tumors, central nervous system tumors and endocrine tumors. Pheochromocytoma may occur in about 1% of these patients.Case report: We report a 56-year-old...

ea0029p402 | Clinical case reports - Thyroid/Others | ICEECE2012

Pendred’s syndrome: genetics and phenotypic variability

Alves M. , Bastos M. , Vieira A. , Gouveia S. , Saraiva J. , Moreno C. , Carvalheiro M.

Background: Pendred syndrome (PS) is an autosomal recessive disorder characterized by defective organification of iodine, goiter and deafness. It is caused by mutations in pendrin gene (SLC26A4), a transporter of chloride/iodide that mediates the efflux of iodine from thyroid follicular cells to the follicular lumen.Clinical case: Case-index: MJFS, female, refered to consultation at 35 years for enlarged neck. Personal history: congenital deafness, thyro...

ea0029p466 | Clinical case reports - Thyroid/Others | ICEECE2012

Ectopic Cushing’s syndrome and thymic hyperplasia

Vieira A. , Paiva I. , Alves M. , Gouveia S. , Saraiva J. , Moreno C. , Carrilho F. , Carvalheiro M.

Introduction: Thymic hyperplasia has been described after hypercortisolism resolution. The natural history remains poorly defined: emergence ≧1 month after hypercortisolism resolution, variable duration, usually spontaneous resolution/benign course.Case Report: ♂, 24, referred in 2000 for secondary hypothyroidism: TSH: 0.25 μUI/ml (0.25–5); FT4: 5.55 pmol/l (9–20). Clinical evaluation: insomnia, nocturnal sweating, facial eryt...

ea0029p1391 | Pituitary Clinical | ICEECE2012

Evaluation of clinical presentation, treatment approach and outcome of a cohort of patients with acromegaly: a single centre experience

Gouveia S. , Paiva I. , Ribeiro C. , Vieira A. , Alves M. , Saraiva J. , Moreno C. , Carvalheiro M.

Introduction: Acromegaly is a rare disease with a high morbidity and mortality rate.Our aim was to characterise the population with acromegaly that is currently under supervision at our Department.Materials and methods: We included 104 patients with acromegaly (mean age at the diagnosis 44.0±13.0; with 71.2% females).The referred population was analysed on what concerns disease’s duration, clinical ...

ea0029p1464 | Pituitary Clinical | ICEECE2012

Parasellar masses: experience in 47 patients

Saraiva J , Gomes L , Paiva I , Vieira A , Alves M , Gouveia S , Moreno C , Carvalheiro M

Introduction: The differential diagnosis of nonpituitary sellar masses is broad. Clinical presentation may be similar to that of pituitary adenomas. Sometimes certain findings are particular to some lesions and may help in their differentiation. Correct preoperative diagnosis is important to better guide therapeutic management. The aim of this work was to analyze patients with parasellar lesions (craniopharyngiomas excluded), attended in the Department of Endocrinology of our ...

ea0026p179 | Neuroendocrinology | ECE2011

X-linked adrenoleukodystrophy: an intersection between Endocrinology and Neurology

Gouveia S , Gomes L , Ribeiro C , Vieira A , Alves M , Saraiva J , Carvalheiro M

Introduction: X-linked adrenoleukodystrophy (X-ALD) is an important cause of primary adrenocortical insufficiency (PAI) in men. It’s characterized by impairment in peroxisomal degradation of very-long-chain-fatty-acids (VLCFA), leading to its accumulation on central nervous system, adrenal cortex and testes.Adrenomyeloneuropathy, the most common phenotype of X-ALD, coexists with PAI in up to 70% cases.Case report: A 28-year-ol...