Endocrine Abstracts

Recent studies have suggested that upper body adiposity is associated with major cardiovascular risk (CVR). However most of them were conducted in obese patients. This study aimed to evaluate the relationship of neck circumference (NC) in a non-obese Brazilian adult population, considering that it would be a simple and time-saving measurement to identify patients with worse cardiometabolic profile. We evaluated 279 non-obese Brazilian adults [86 men (♂), 193 women (&#979...

Several pathological processes contribute to the development and progression of pulmonary arterial hypertension (PAH), which is a disorder with high morbidity and mortality rates. However, although cardiac manifestations are common in hyperthyroidism (HT), they have been seldom described in association with HT. Thus, the objective of this study was to evaluate echocardiographic parameters in patients with Graves Disease (GD) during uncontrolled hyperthyroidism and after its re...

Background: The goals of acromegaly treatment are to achieve long-term biochemical control, control tumor size and decrease the risk of developing systemic comorbidities. Moreover, from the patient’s perspective, symptoms and QoL are critical parameters of disease control and should be assessed routinely. To aid in the global clinical management of acromegaly, a holistic clinical decision support tool, the Acromegaly Disease Activity Tool (ACRODAT®) was developed.</p...

Introduction: Maturity onset diabetes mellitus of the young (MODY) is a form of monogenic diabetes characterized by pancreatic B-cell dysfunction. The most common subtypes are caused by mutations in the genes encoding glucokinase (GCK) and hepatocyte nuclear factor (HNF1a, HNF4a), although unidentified genes are also involved. Regulatory factor X6 (RFX6) is a transcription factor gene which has an important biological role in B-cell formation and function. Biallelic mutations ...

Introduction: Diabetic gastroparesis (DGP) is defined by delayed gastric emptying in the absence of mechanical obstruction caused by autonomic neuropathy. Only 5% of type 1 and 1% of type 2 diabetic patients combine the delay of gastric emptying with typical gastroparesis symptoms. This entity is usually identified in patients with least 10 years of diabetes evolution and is presented typically in the 4th to 5th decades of life in type 1 diabetes mellitus (T1DM). It is associa...

Introduction: Insulinoma, despite its low incidence of 0.4%, it is the most common functioning pancreatic neuroendocrine tumor. Most are benign, solitary and sporadic. Around 10% can be malignant and 5-10% are part of MEN-1. On certain occasions, the differential diagnosis is difficult when there is a history of Diabetes Mellitus (DM). Our objective was to describe clinical-epidemiological data and its diagnostic-therapeutic management.Materials and Meth...

Whilst several key genetic contributors to the phenotype of central precocious puberty (CPP) have been recognized, many familial cases remain without a clear genetic aetiology. Methyl-CpG-binding protein 2 (MECP2) is a chromatin-associated transcriptional regulator, which plays an essential role in neuronal maturation. It is encoded by the MECP2 gene, located at chromosome Xq28, which is highly expressed in brain tissues. Loss-of-function mutations in MECP2 are usually associa...

Background: Inferior petrosal sinus sampling (IPSS) is indicated in the diagnosis of adrenocor-ticotropic hormone (ACTH)-dependent Cushing’s syndrome (CS), especially when the results of the initial diagnostic tests are discordant.Objective: To describe the patients who underwent this invasive functional test in a tertiary hospital.Methods: This was an observational study of a retrospective cohort of patients with ACTH- depend...

Introduction: Lutetium-177-DOTATATE (Lu177) is approved in patients with well-differentiated (G1 and G2) neuroendocrine tumors (NETs) positive to somatostatin receptors, progressive and unresectable or metastatic. Lu177 has been shown to increase progression-free survival and the quality of life of these patients.Material and Methods: Retrospective descriptive study of a series of 15 cases with NETs treated with Lu177. Demographic data, tumor characteris...