Endocrine Abstracts

Background: Carney complex (CNC) is a rare multiple neoplasia syndrome, its commonest endocrine manifestation being ACTH-independent Cushing’s syndrome, histologically characterized by primary pigmented nodular adrenocortical disease (PPNAD). There is significant genetic and phenotypic heterogeneity, but deletions at 17q24.2 are rare. We describe the particular characteristics of a patient with a microdeletion in this area.Case report: A 37-year-old...

Background: Androgen co-secretion in patients with adrenal Cushing’s syndrome is considered a marker of malignancy. Mixed secretion by benign adrenocortical tumors is rare. We describe a case of a middle aged woman presenting with Cushing’s syndrome and polycythemia.Case report: A 57-year-old lady was referred by the Hematology Service to our Endocrine Clinic for evaluation of an adrenal mass found in an abdominal CT in the course of investigat...

Introduction: Collision thyroid tumors are defined as independent and histologically distinct tumors that coexist within the thyroid gland. Collision thyroid tumors are rare and their prevalence is unknown.Methods: A retrospective, registry-based study was performed by reviewing the electronic medical records of the Department of Endocrinology, Ippokratio General Hospital of Thessaloniki, Greece. All patients with thyroidectomy and thyroid cancer diagnos...

Introduction: Ectopic parathyroid tissue is a rare cause of primary hyperparathyroidism (PHPT). Intrathyroid location has been reported in 18–33% of cases.Case report: A 67-year-old Caucasian female was admitted for evaluation of multi-nodular goiter and normocalcaemic PHPT. The patient was asymptomatic; her medical history was remarkable for hypertension, dyslipidaemia, and albuminuria. Her family history has positive for albuminuria.<p class="...

Introduction: Adrenal incidentalomas (AIs) are increasingly detected due to the widespread use of abdominal imaging for diagnostic purposes. AIs are usually benign non-functioning adenomas but few prospective studies exist regarding their evolution.The aim of this study was to investigate the morphological and hormonal changes of AIs in a cohort of patients with long-term follow-up.Materials and methods: This was a prospective obse...

Objectives: Growing interest has been focused on the role of atrial natriuretic peptide (ANP) in the protection of cardiac and vascular integrity. Moreover, ANP enhances lipolysis and fat-oxidation. However, the impact of exercise on ANP in obesity is not yet investigated. The aim of this study was to evaluate the modulation of exercise-induced changes in ANP in obesity.Methods: We studied the hormonal and metabolic responses to 30 min exercise on cyclo-...

Background: Assessment of hypothalamic–pituitary adrenal axis in patients with schizophrenia is complex, as it involves both the disease process and antipsychotic medications. We present a case of a patient on long term clozapine with a concomitant pituitary adenoma who presented discordant responses to adrenal stimulation.Case: A 38-year old male was referred with chronic symptoms of reduced libido and associated low testosterone levels. He was tre...

Introduction: Various methods to quantify calcified coronary plaque have been used in common clinical practice in the past few decades to compliment cardiovascular risk assessment. The estimation of calcium load in other organs and conditions has been at best semi-quantitative. Patients with long-standing hypoparathyroidism are known to suffer with nephrocalcinosis and basal ganglia calcification. We attempted to quantify end-organ calcium burden in a series of patients with v...

Introduction: The pathogenesis of Graves’ disease (GD) and Graves’ orbitopathy (GO) is not completely understood. On the other hand, vitamin D receptor (VDR) gene polymorphisms have been associated with susceptibility to a variety of chronic autoimmune diseases. The primary aim of this study was to synthesize the best available evidence regarding the association between VDR gene polymorphisms and risk of GD. Secondary aim was to search for their association with GO.<...

Introduction: Hajdu Cheney Syndrome (HCS) is a rare genetic autosomal dominant disorder affecting multiple organ systems, characterized by distinctive facial features, acroosteolysis and severe osteoporosis. In a limited number of cases, the disease appears in association with polycystic kidney disease (PKD) or Crohn’s disease (CD). Splenomegaly has also been reported. Heterozygous gain-of-function mutations in NOTCH2 gene have been confirmed to be the cause of H...