Endocrine Abstracts

Introduction: Hereditary phaeochromocytoma (PCC) and paraganglioma (PGL) account for 30–35% of cases and have some clinically relevant peculiarities.Material and methods: Retrospective, unicentric cohort study that included all genotyped patients (n=36, 27 with PCC and 9 with PGL) diagnosed at Hospital Clínico San Carlos (Madrid) between 1984 and 2013; 33% were germline mutation carriers (25% pseudohypoxic [PH] phenotype, 75% MAP-kinas...

Introduction: Hereditary Medullary Thyroid Cancer (MTC) accounts for 20–30% of cases and has some clinically relevant peculiarities.Material and methods: Retrospective, unicentric cohort study that included all genotyped patients with MTC (n=48) diagnosed at Hospital Clínico San Carlos (Madrid) between 1984–2013; 42% were germline mutation carriers (45% moderate risk (category MOD), 45% high risk (category H), 10% highest risk (ca...

Introduction: Hyponatremia (HN) is associated with worse clinical outcomes, and longer hospital lengths-of-stay than seen in eunatremic patients. The Syndrome of Inappropriate Antidiuresis (SIAD) is the most common cause of hyponatremia in hospitalization. We studied the relationship between correction of sustained SIAD-induced hyponatremia and visits to the Emergency Room (ERv) as well as hospital admissions (HA) in a case series.Methods: Retrospective,...

Context: Primary hyperparathyroidism (PHPT) is a common endocrine disease, characterized by the chronic elevation of serum calcium (Ca) levels induced by a long-standing increase of PTH concentrations. PHPT includes mild-asymptomatic and symptomatic forms. Cinacalcet is effective in lowering serum Ca levels in PHPT, but is indicated solely in mild-asymptomatic PHPT meeting surgery criteria. Management of non-surgical mild-asymptomatic PHPT is still a debated issue.<p class...

Introduction: Fatal insomnia is a neurodegenerative spongiform prion disease. Presentation can be sporadic or hereditary (autonomal dominant). The latter, FFI, is caused by a mutation in the human prion protein gene on chromosome 20. Affected individuals present a disorderd sleep-wake cycle, dysautonomia and motor signs, with a predominance of lesions in the thalamus. SIADH has been described in two affected patients.Case Study: A 70-year-old woman was r...

Introduction: Hyponatremia(HN) is frequent in the emergency room(ER), yet often ignored, or poorly studied/managed. Our objective was to determine the characteristics of patients presenting HN at the ER of a general hospital.Methods: Retrospective analysis of all 347 patients(AllP) presenting/developing non-translocational HN (serum sodium (SNa)<135 mmol/l) the first 48 h at the Hospital Clinico San Carlos ER in August 2012. Volemia was determined by...