Endocrine Abstracts

Introduction: Turner syndrome (TS) is one of the most common chromosomal abnormalities, characterized by systemic involvement and susceptibility to some disorders that begin or progress in adult life. These lead to an increase in morbidity and mortality and a decrease in quality of life. The aim of this study was to analyse the profile of women with TS, who are currently followed in endocrinology, regarding: karyotype, age, final height and weight, puberty and fertility, and m...

Background: Optimal management of type 1 diabetes requires full understanding of the relationships between the triad: HbA1c, fasting plasma glucose, and glucose variability (GV). As GV may contribute to HbA1c we assessed the influence of GV in HbA1c levels.Research design and methods: We retrospectively analysed 9393 h of continuous glucose monitorings (CGMs) from 61 patients with type 1 diabetes. Periods of 24 h with missing values were excluded. We cal...

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: Individuals with Turner syndrome (TS) are prone to develop autoimmune conditions. The most frequently found are Hashimoto’s thyroiditis, type 1 diabetes, coeliac disease, and inflammatory bowel disease. In patients with TS, Addison’s disease isolated or combined with other autoimmune disease as type 2 polyglandular autoimmune syndrome, is a rare finding.Case report: We report a case of a 41-year-old female patient, with severe ast...

Introduction: Factitious hypoglycemia results from surreptitious administration of insulin or insulin secretagogues. It can involve non-diabetic individuals with knowledge of hypoglycemiant drugs, or diabetics manipulating the doses.Clinical case: A 42-year-old women, type 1 diabetic since the age of 14, on intensive insulin therapy (A1C: 8.5%), was hospitalized for study of recurrent severe hypoglycemia in the last 2 months, despite successive insulin d...

Introduction: Radioiodine (RAI) therapy is an inexpensive and reliable therapeutic option for Graves’ disease (GD). However, individual characteristics of the disease can influence therapeutic success. The identification of these factors may help to predict outcome and select optimal pre-treatment conditions.Aim: To assess clinical, laboratory and radioactive parameters that may lead to RAI treatment failure in patients with GD....

Introduction: Methimazole is the thionamide compound most used in the treatment of hyperthyroidism due to its efficacy, commodity and security. Severe side effects are rare, although potentially fatal: agranulocytosis in 0.1–0.5% and toxic hepatitis in 0.1%Aims: To characterize the patients admitted in the endocrinology ward for the last 10 years for severe complications of methimazole therapy.Material and Methods: Retrospecti...

Introduction: Pituitary tumors can be classified according to their endocrine function, starting from the clinical phenotype to establish a diagnosis. The histological analysis can confirm the clinical suspicion. A thorough classification is essential in the therapeutic approach with an important influence in the disease-free survival.Case report: We report a case of a 16-year-old male, with loss of visual acuity and headache, attended by an Ophthalmolog...

Introduction: Cushing’s disease (CD) is a Grave disease that requires a multidisciplinary and individualized treatment approach.Case report: We describe the case of a 31-years old female patient with Cushing disease diagnosed in 2007. She initially complained of weight fluctuations, amenorrheia, rounded face with plethora and acne, for 1 year duration. Analytically: 0800 h plasma cortisol of 14 μg/dl (5–25) and 2300 h 15 μg/dl, ACTH 1...