Endocrine Abstracts

Background: In patients with Bardet-Biedl syndrome (BBS), signaling impairments in the melanocortin-4 receptor (MC4R) pathway lead to hyperphagia and severe obesity, which negatively impact quality of life (QOL). We evaluated the impact of setmelanotide, an MC4R agonist, on age-appropriate weight-related parameters, hunger, and QOL in a Phase 3 trial of patients with BBS to further characterize clinical benefit in this patient population.Methods: Patient...

Lung carcinoids are slow-proliferating neuroendocrine neoplasms commonly showing low mutational burden but a high heterogeneity and difficult clinical management. Despite valuable advances in their molecular characterization, some aspects remain still unknown. Recent studies have shown that alternative splicing is severely dysregulated in lung carcinoids, where it could promote tumoral features. In contrast, the role of some molecular systems closely related to splicing and ot...

Neuroendocrine tumors (NETs) and carcinomas (NECs) are a heterogeneous group of malignances whose incidence is increasing worldwide. First-line approach is represented by surgery, whereas an effective pharmacological treatment for disseminated and relapsing disease is still needed. Somatostatin (SS) receptors (SSTs) constitute the main suitable pharmacological targets for NETs therapy with SS analogs (SSAs). Nevertheless, a large proportion of NETs and most NECs, are unrespons...

Introduction: Cinacalcet is a positive allosteric modulator of the calcium sensing receptor successfully used to decrease serum calcium in primary hyperparathyroidism (pHPT) patients in the short-term, but long-term data are scarce. In this single-centre retrospective analysis, we investigated the efficacy and safety of cinacalcet in pHPT patients who received more than 5 years of treatment.Methods: Statistical analysis was performed using free online so...

TSH-secreting pituitary adenomas are a rare cause of hyperthyroidism. The diagnosis should be considered in all hyperthyroid patients, especially those with a diffuse goiter and no extrathyroidal manifestations of Graves’ disease. Most TSH-secreting adenomas secrete only TSH. Most patients have the typical symptoms and signs ofhyperthyroidism (eg, palpitations, tremor, heat intolerance), but a few patients have mild or even no hyperthyroid symptoms. Other clinical feature...

Pituitary adenomas (PAs) account for 15-20% of intracranial tumors. PA with a cystic component are characterized in the MRI by a sellar, symmetrical, round or ovoid mass that enhances on T1- or T2-weighted images but does not concentrate gadolinium. We present the case of a 48-year-old man who in a headache study by Neurology requested a CT scan showing a cystic pituitary macroadenoma of 1.25cm confirmed by pituitary MRI. In the initial analysis, the pituitary function was pre...

Introduction: The clinical presentation of ectopic Cushing’s syndrome secondary to pheochromocytoma differs from the classic manifestations of these endocrinopathies separately. This cosecretion causes greater morbidity, requiring a complex preoperative preparation. We describe two clinical cases, a 46-year-old male with grade II overweight and a 65-year-old female with grade I obesity, both with a personal history of hypertension poorly controlled with 7 and 3 antihypert...

Introduction: Maternal clinical thyroid disorders can cause reproductive complications. However, the effects of mild thyroid dysfunction are controversial. The impact of SH and thyroid autoimmunity on miscarriages, obstetric and perinatal outcomes are not yet well established and the effect of levothyroxine replacement in pregnant women with SH is unclear. The aim of this study was to evaluate the impact of thyroid autoimmunity in early pregnancy on obstetric and perinatal out...

Introduction: To date, benign thyroid nodules complainig of symptomatic or cosmetic problems and autonomous functioning thyroid nodules (AFTN) have generally been treated with surgery or I131. Radiofrequency ablation (RFA) is a novel technique that has demonstrated safety and efficacy in the treatment of these nodules. We describe the clinical experience at our hospital.Material and method: We include 33 patients (28 women, 5 men) from January 2013 to Se...

Objective: This study reviews the clinical characteristics of patients treated in a Multidisciplinary Diabetic Foot Unit (MDFU) and analyzes the rate of diabetic foot amputations and the risk factors associated.Design and methods: A retrospective cohort study including data from all patients who attended the MDFU during December 2017-October 2018 period. The patients were followed until January 2019. Clinical, anthropometric, and biochemical parameters (...