Endocrine Abstracts

Introduction: Langerhans cell histiocytosis (LCH) is a rare disorder characterized by proliferation/accumulation of cells phenotypically similar to skin Langerhans cells. Clinical presentation and aggressiveness are very heterogeneous, from benign to disseminated forms that cause significant morbi-mortality, particularly endocrine failures.Case 1: A 15-year-old Caucasian woman presented with a 14-month history of headaches, secondary amenorrhea. She repo...

Introduction: Medullary thyroid carcinoma (MTC) occurs in a hereditary pattern in 25% of cases. Virtually all patients with multiple endocrine neoplasia 2A (MEN2A) develop MTC. MTC aggressiveness and natural history varies according to the RET mutation. Prophylactic thyroidectomy may cure and/or prevent metastatic disease in most cases.Case report: A 27-year-old man with past history of colostomy at 5 months of age for Hirschsprung disease and t...

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...

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...

Introduction: Primary hyperaldosteronism (HAP) is the main cause of secondary hypertension, with a prevalence estimated between 6 and 20% in resistant hypertension. Clinical suspicion is critical, especially if aldosterone-to-renin ratio (ARR) >25, however the diagnosis is dependent on confirmatory evidence, including aldosterone suppression tests.Methods: Retrospective evaluation of 44 patients with suspected PAH, identified betwee...

Introduction: Despite being a psychiatric disorder, anorexia nervosa (AN) is associated to severe systemic complications. The endocrine complications of AN are an opportunity for the diagnosis and treatment of this condition. The authors report the experience of the Endocrinology Department in the treatment of AN in inpatient setting.Patients and methods: Retrospective analysis of 45 patients admitted with AN between 2001 and 2015 in the Endocrinology de...

Introduction: Hypophostemic rickets is characterized by phosphate renal loss associated with a primary defect of osteoblasts and metabolism of vitamin D. Marked bone turnover caused by high levels of parathyroid hormone attribute to these patients an elevated risk for hungry bone syndrome after parathyroidectomy.Case report: A 34-years old woman with a past history of Lynch syndrome and hypophostemic rickets associated with hyperparathyroidism and brown ...