Endocrine Abstracts

Introduction: XX male syndrome is a disorder of sex development associated with a 46, XX karyotype and is characterized by such features as: small testes, hypergonadotropic hypogonadism, male external genitalia, gynecomastia and azoospermia. The estimated prevalence is 1/20.000 males. Gender role and gender identity are reported as male. Identification and subsequent treatment is necessary to avoid the manifestations of testosterone deficiency.Clinical C...

Introduction: Wernicke Encephalopathy (WE) is an acute neurologic disorder caused by thiamine deficiency. It is characterized by the classic triad of encephalopathy, gait ataxia and oculomotor dysfunction. It occurs in the setting of poor nutrition caused by lack of dietary intake or malabsorption. Since both of them can happen in patients that underwent bariatric surgery it is of utmost importance to prevent, recognize and treat this severe complication.<p class="abstext"...

Introduction: Myxedema coma is the ultimate stage of severe long-standing hypothyroidism, representing a true endocrinological emergency. Many precipitating factors have been identified, including the initiation of certain drugs.Case report: An 89-year-old woman was admitted to our emergency department due to an inaugural seizure. There was a history of progressive functional deterioration in the last 7 weeks, short after being diagnosed with lymph node ...

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: 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...

Aim: Epicardial adipose tissue (EAT) has important physiologic functions, nonetheless, excessive EAT leads to a proinflammatory state with adverse effects on the myocardium. EAT has also been associated with adverse outcomes in chronic kidney disease (CKD) patients. We think that visceral adipose tissue (VAT) and organ-specific ectopic fat plays an important role in cardiorenal dysfunction. The aim of our study is to analyse the relationship between EAT and the risk of develop...

Introduction: Monogenic forms of diabetes that develop with autosomal dominant inheritance are classically aggregated in the maturity-onset diabetes of the young (MODY) categories. Despite increasing awareness, its true prevalence remains largely underestimated.Aim: o evaluate the clinical and molecular characteristics of patients with MODY.Methodology: This single-center retrospective cohort study enrolled patients with positive g...