Endocrine Abstracts

BackgroundAdrenocortical carcinoma (ACC) is a rare but very aggressive endocrine malignancy with poor survival. Histopathology is important for diagnosis, while in some cases immunohistochemical markers and gene profiling of the resected tumor may be superior to current staging systems to determine prognosis.AimHerein, we aimed to present the 20year experience at a tertiary Hospital in patients with ACCs and ...

BackgroundOrthodox religious fasting (OF) is a variation of the classical Mediterranean Diet during which meat and other animal products are restricted, whereas fish are occasionally and sea food are always allowed. The aim of this prospective study was to assess sex-specific differences in changes of lipid concentrations in a cohort of metabolically healthy adults following OF and investigate a potential role of vitamin D status in mediating these varia...

Background: Apart from traditional cardiovascular-risk factors and fluctuating sex hormone levels, environmental and lifestyle factors might also contribute to the heightened cardiovascular risk after menopause.Objective: To explore whether nutritional factors are associated with subclinical vessel disease in postmenopausal women.Methods: This cross-sectional study recruited 310 apparently healthy postmenopausal women, attending a ...

Introduction: Familial hypocalciuric hypercalcemia (FHH) causes lifelong hypercalcemia, which, in general, is not associated with significant morbidity. FHH1, the most common type of the disease, is inherited in an autosomal dominant pattern and caused by inactivating mutations in the Calcium Sensing Receptor (CaSR) gene, located in chromosome 3. Inactivation of CaSR in parathyroid cells results in a shift of calcium set point to higher values with consequent...

Introduction: With the advent of modern imaging, up to 30% of adrenal pheochromocytomas are discovered incidentally in asymptomatic patients. Smaller tumors may be ‘pre-biochemical’ in their secretory capacity, but truly nonfunctioning tumors over 3 cm are exceedingly rare. We describe a case of a clinically and biochemically silent pheochromocytoma.Case report: A 65-year-old woman was found to have a left adrenal incidentaloma on an abdominal ...

Introduction: Sweet’s syndrome is a rare, acute febrile neutrophilic dermatosis, associated with a variety of inflammatory and neoplastic conditions, drug reactions and rarely with a spectrum of thyroid dysfunction. A possible link between thyroid autoimmunity and Sweet’s syndrome has been previously suggested by rare reports of Hashimoto’s thyroiditis, subacute thyroiditis and classic Graves’ disease. We describe a case of ‘atypical’ hyperthyroid...

Introduction: Asplenia has been reported in 10% of patients with type 1 APS (APS-1), but has never been reported in APS-2. We describe a patient with presumed APS-2 and aplenia.Case report: A 69-year-old woman was diagnosed with B12 deficiency with severe anemia at age 21 and insulin dependent diabetes mellitus at age 33, following routine testing. At 59, she was hospitalized with salt wasting and a diagnosis of Addison’s disease was made, which was...

Background: TAO is a rare disease, seriously involving 5% of patients with autoimmune thyroid disease. The clinical presentation may be difficult to distinguish from other orbital conditions.Case 1: A 63-year-old woman was admitted to the Neurology Service for worsening diplopia over the previous six months, with a working diagnosis of myasthenia gravis or multiple sclerosis. The Endocrine Service was consulted because of a long history of Hashimoto&#146...

Hepatocyte nuclear factor 1B (HNF1B) defects (mutations or deletion) are associated with amultisystem disorder, including urinary tract abnormalities and diabetes (MODY 5, maturity-onset diabetes of the young type 5). We present the case of a patient with congenital anomalies of the kidney and urinary tract in the context of 17q12 deletion syndrome who several years later, presented with MODY 5. A 20-year-old male presented at the outpatient Endocrine Clinic with new-...

Introduction: Klotho has an important role in insulin signaling and the development of ageing-like phenotypes in mice. Recently, the G-395A polymorphism in the promoter region of the human klotho gene has been reported to affect promoter function. It has been also shown to be an independent genetic risk factor for atherosclerotic cardiovascular disease. The aim of this study was to examine the possible role of this polymorphism in the metabolic syndrome....