Endocrine Abstracts

Introduction: Glycogen storage disease (GSD) type Ia (von Gierke’s disease) is an inherited metabolic disorder of glycogen metabolism, caused by defects in the glucose-6-phosphatase complex, with associated risk of severe hypoglycemia within 3–4 h after a meal.The aim of the present study was to evaluate the efficacy of continuous glucose monitoring (CGM) system in determining the magnitude of hypoglycemia in patients with GSD type Ia.<p cl...

Introduction: Woodhouse-Sakati Syndrome (WSS) is a very rare autossomic recessive disorder caused by mutations in DCAF17 gene that primarily affects the endocrine and the nervous systems. It is associated with hypogonadism, diabetes mellitus, hypothyroidism, sensorineural hearing loss, alopecia and extrapyramidal findings. Treatment is symptomatic and managed by multidisciplinary teams. Less than 80 cases are reported to date.Case repor...

Background: Gestational diabetes mellitus (GDM) is a risk factor for type 2 diabetes and both conditions are characterized by insulin resistance (IR) and decreased insulin production by pancreatic beta-cells. FNDC5 gene encodes a type I membrane protein that is proteolytically processed to form a hormone secreted into the blood, termed irisin. After induction by exercise, irisin activates profound changes in the subcutaneous adipose tissue, stimulating browning and UCP1 gene e...

Background: Distal symmetric polyneuropathy (DSPN) is one of the most prevalent chronic complications of diabetes and the most common cause in the pathway to diabetic foot ulceration. Screening for DSPN enables early intervention and prevention of complications. The Semmes-Weinstein Monofilament Examination (SWME) is currently the method of choice to screen DSPN, but ideally two neurologic tests should be used. The Michigan Neuropathy Screening Instrument (MNSI), which evaluat...

Objective: The aim of this study was to evaluate the treatment outcomes in patients with autonomous toxic nodule (ATN) that received a radioiodine treatment (RAIT) and to determine the influence of age, gender, nodule size and iodine activity.Methods: We performed a retrospective study of all RAIT done for hyperthyroidism (n=149) in our hospital during 2014 and 2015. Patients with ATN submitted to RAIT were selected to analysis. We studied 58 pa...

Background: Papillary thyroid cancer (PTC) is the most frequent type of well-differentiated thyroid cancer (WDTC) and frequently poses a management dilemma. Its indolent behavior associated with high long term survival support the trend towards a more conservative management approach. The authors present a case of isolated bone metastases as the form of presentation of papillary thyroid carcinoma. A 61-year-old man was admitted with complaints of lower back pain for the previo...

Introduction: Insulinomas are the most frequent cause of endogenous hypoglycaemia. 90 to 95% of these are benign. Surgical enucleation or resection is the standard treatment. Medical therapy focuses mainly on the use of diazoxide with few alternatives in patients with high surgical risk.Case-report: Female patient, 89 years-old, non-diabetic, with previous history of acute myocardial infarction, stroke with motor sequelae, pacemaker carrier and severe ao...

Introduction: Evidence implicates oxidative stress as mediator of diabetic complications. Furthermore, glucose variability (GV) is associated with oxidative stress and inflammation; however, association between GV and diabetes complications remains to be established. Our aim was to assess GV in patients with and without microvascular complications (MVC).Methods: We analysed 2454 and 6593 h of continuous glucose monitoring of patients with type 1 diabetes...

Introduction: Radioiodine (131I, RAI) is a safe and effective option for the treatment of Graves’ disease (GD). However, approximately 20% of RAI treated patients will have persistent disease or will relapse after the first treatment. Our aim was to identify the factors influencing the outcomes in RAI treatment for GD.Methods: We analysed 143 DG patients (116 women) treated with RAI between October 2002 and April 2014 and ≥12 months...

Primary Aldosteronism (PA) is the most prevalent cause of secondary hypertension. The aim of this work was to characterize the diagnostic workup, treatment and follow-up of confirmed PA.The adrenal tumour study group of the Portuguese Society of Endocrinology undertook the first retrospective multicentre study of Portuguese PA patients. Data was gathered from nine Portuguese Endocrinology centres (three in the north, one in the centre and five in the sou...