Endocrine Abstracts

Introduction: Family hypobetalipoproteinemia (HBF) is a rare genetic disorder, in 50% of cases are due to mutations APOB gene, which leads to decreased values of total cholesterol, low density lipoprotein (LDL-cholesterol) and apo-B. It is inherited as an autosomal dominant and heterozygous carriers are usually asymptomatic.Clinical case: Thirty-two-year-old male with abdominal pain and diarrhea associated with food, no relevant history and physical exam...

Introduction: Assessing the effect of GLP 1 receptor agonist on metabolic control and weight loss in obesity and type 2 diabetes patients.Description of methods: A retrospective descriptive study involving type 2 diabetes patients and BMI >30 kg/m2, who started treatment with GLP-1-RAs during the years 2012–2014. Variables analyzed: weight and HbA1c at the begging, 6 months, 1 and 2 years; regimen at baseline and after GLP-1-RAs; inci...

Introduction: Myxoid tumors of the adrenal glands constitute an unusual entity and should be part of the differential diagnosis of atypical adenomas in the study of adrenal incidentaloma.Description of methods: We report the finding of myxoid adrenal adenoma in left adrenal gland in a 38-year-old woman.Case: PMH: Active smoker. Non hypertension, type 2 diabetes or dyslipidemia. No constitutional symptoms.Phys...

Introduction: Familial hypocalciuric hypercalcemia (FHH) has been classically characterized as an asymptomatic disease with mild hypercalcemia, hypocalciuria and inappropriately normal or high serum PTH concentration. The aim of our study is to assess the utility of genetic testing in patients with suspected FHH with atypical clinical manifestations, and the validity of classical biochemical parameters for the diagnosis.Description of methods: A retrospe...

Introduction: Hyponatraemia is the most common electrolytic disorder in clinical practice. We designed a protocol, based on the latest consensus statements and adapted to our Hospital, for the use of 3% hypertonic saline solution (HSS) in patients with hyponatraemia.Material and methods: Unicentric observational study of a case series. We collected data from 14 adult patients with severe hyponatraemia (serum sodium [SNa] <125 mmol/l) and mild-moderat...

Introduction: Generously supported by IPSEN)-->Surgical treatment of pituitary adenomas (PA) may affect hormone situation.Objective: To evaluate the frequency of hypopituitarism and investigate the potential predictors of worsening or improving pituitary function after PA surgery.Methods: Retrospective analysis of all PA operated in our hospital between 2001 and 2010.<p class="abstext...

Introduction: p53 is a transcription factor involved in many biological functions such as stress, ageing, and metabolism. Although there is a large body of evidence showing that p53 promotes fatty acid catabolism while it inhibits anabolism through the regulation of gene expression, the possible contribution of p53 to the pathogenesis of nonalcoholic fatty liver disease (NAFLD) remains to be elucidated. Also, the anthracycline doxorubicin is an important chemotherapeutic agent...

Aim: To determine, in type 1 diabetes mellitus (T1DM) patients, if there is any relationship between the age at onset and the number of HLA risk alleles for T1DM (DRB1*03 and DRB1*04).Methods: Retrospective study. We selected patients with T1DM diagnosis (pancreatic autoimmunity and insulin-dependent diabetes) and age at onset >15 years, identifying 275 subjects (59.6% men and 40.4% women), with a median age at onset of 31 years (interquartile range ...

Introduction: In the past few years, advances in technology applied to diabetes have significantly changed the type 1 diabetes management. However, only a minority of patients with type 1 diabetes achieves the recommended glycemic goals. Advanced Hybrid Closed-Loop (AHCL) systems, which combine continuous glucose monitoring (CGM) with a continuous subcutaneous insulin infusion (CSII) pump and a control algorithm, improve glycemic control and patient-reported outcomes, such as ...

Introduction: Medullary thyroid cancer is a rare neoplasm, accounting for approximately 4% of all cases of thyroid cancer. Exceptionally, it can be associated with the hormonal production of ACTH or CRH, causing ectopic Cushing’s syndrome.Clinical Case: We present the case of a 43-year-old man who, as a history of interest, presented a T6-T8 vertebral body fracture 2 years ago and a right hip fracture 1 year ago. Bone densitometry is compatible with...