Endocrine Abstracts

Introduction: Amyloidosis is a disease characterized by the accumulation of an amorphous proteinaceous material, known as amyloid, in various organs and tissues of the body. Amyloid goiter is a remarkably rare pathologic condition due to thyroid massive amyloid infiltration of amyloid light chain (primary) or amyloid A (secondary amyloidosis) proteins. Case: 54 year-old male, with known history of chronic tophaceous gout medicated with anakinra and predn...

Introduction: Hypercalcemia is not uncommon in clinical practice and may present as a life-threatening emergency. Its main aetiologies are primary hyperparathyroidism (80% parathyroid adenomas; 20% multiglandular hyperplasia, <1% parathyroid carcinomas) and hypercalcemia of malignancy, with or without presence of bone metastases.Case Report: We present a case of a 77 years-old male, submitted to a subtotal gastrectomy at the age of 73 due to a perfor...

Introduction: Cushing’s Syndrome secondary to inhaled or topic corticosteroids is very rare, although there are reports of a link to cytochrome inhibitors. Ritonavir, a protease inhibitor used for treatment in human immunodeficiency virus (HIV) infection, is a potent inhibitor of cytochrome P450 3A4.The case: A 41 years old man - with personal history of asthma, HIV infection diagnosed in 2002 and hepatitis C infection since 1999 – was sent to ...

Idiopathic congenital hypogonadotropic hypogonadism (CHH) is a rare reproductive disorder that is primarily caused by a gonadotrophin-realising hormone (GnRH) deficiency. When CHH is associated with hyposmia or anosmia is designated by Kallmann Syndrome (KS). This syndrome is a genetic disorder with significant genetic heterogeneity that may present as a sporadic or familial case, following autosomal dominant, autosomal recessive, or X – linked recessive modes of inherita...

Introduction: Clinical trial data demonstrate improved glycemic control in individuals with type 1 diabetes (T1D),especially, reduction of time in hypoglycaemia with flash glucose monitoring (FGM);however real-life conditions can modify this scenario.Aim: To examine real world use and glycemic control following a standardized initiation process of FGM.Methods: Individuals aged 18 years or older with T1D were prospectively recruited...

Introduction: Hypertriglyceridemia, a cardinal feature of metabolic syndrome (MS), is associated with cardiovascular disease and abnormal metabolism of apolipoproteins which may form the basis for this relationship. The aim of this study is to evaluate triglyceride-rich lipoproteins profile in MS patients.Material and methods: A retrospective study was performed, including patients evaluated in a tertiary hospital. Patients with thyroid dysfunction, neop...

Introduction: There are significant physiologically and clinically differences in profiles between metabolic healthy and metabolic unhealthy obese individuals. Several markers are on study in order to better characterize the metabolic profile of metabolic unhealthy obese individuals. The aim of this work was to determine whether the triglycerides/glucose (TyG) index may be a valuable marker for identifying metabolically unhealthy obesity.Methodology: Met...

Introduction: This study presents four clinical cases of lipodystrophies, which are a group of rare and heterogeneous diseases characterized by the decrease or lack of adipose tissue (AT) accompanied by metabolic complications.Clinical cases: 1) 59-year-old woman with partial familial lipodystrophy, type 7 (OMIM #606721): Diagnosis of suspected type 1 diabetes (DM) at 28 (treated with insulin with poor control), class 1 obesity and hypertriglyceridemia. ...

Introduction: MODY 5 is a rare form of autosomal dominant monogenic diabetes with a broad phenotypical spectrum that occurs with pancreatic and extra-pancreatic clinical manifestations, such as: malformation and dysfunction of the pancreas, nephrourologic anomalies, impaired renal function, hepatopathy and neurocognitive defects. It is caused by a mutation of the gene encoding hepatocyte nuclear transcription factor 1 beta (HNF1β).Case 1: M...

Introduction: Adrenal incidentalomas are asymptomatic adrenal masses found accidentally during routine examination, not intended for adrenal pathology evaluation. The functionality of these lesions must be further investigated. Rarely, bilateral adrenal nodular hyperplasia can be detected in a patient with Cushing’s disease. The authors present the case of a patient with possible autonomous cortisol secretion of adrenal origin that eventually emerged as Cushing’s dis...