Endocrine Abstracts

Introduction: Cushing Syndrome have long been recognised to predispose patients to infection diseases, a consequence of the immunosuppression induced by corticosteroids. There is a predisposition to viral, bacterial, parasitic and especially fungal diseases. Opportunistic infections, particularly invasive fungal infections, represent a serious complication associated with an increased risk of mortality.Clinical case: We represent a 55 years-old woman, po...

Introduction: Graves’ disease (GD) hyperthyroidism is caused by autoantibodies against TSH receptor (TRAb). Three varieties of TRAb are now recognized: stimulating (TSI), blocking and neutral antibodies. Current TRAb immunoassays detect and quantify serum immunoglobulins that interact with the TSH receptor but without discriminating their function. An automated immunoassay for the detection and quantification of TSI is available.Objective: Our study...

Introduction: Neurofibromatosis type 1 is a disease caused by mutations in the tumor suppressor gene NF1.Although pheochromocytoma is a rare manifestation in these patients (~0.1–5.7%), the incidence is significantly higher than that of the general population.Results (case description): A 50 years old female patient had a clinical diagnosis of neurofibromatosis type 1 since she was 5 years old. She received follow-up in ...

Introduction: Adrenocortical carcinoma is a rare endocrine disease characterized by an aggressive behaviour with a poor prognosis. Clinical experience, even with a little number of patients, has enhanced knowledge about this malignancy, in most cases challenging.Objective: Characterization of patients with adrenocortical carcinoma followed at the endocrine department of a hospital centre, between 1991 and 2019.Methods: Retrospectiv...

Introduction: Congenital Adrenal Hyperplasia (CAH) results from enzymatic defects caused by autossomal recessive hereditary mutations characterized by deficient cortisol synthesis and, in most cases, increased androgen synthesis. 90–95% of the cases are originated by deficits in 21-hydroxylase and, in about 75% of the cases, there is evidence of mineralocorticoid deficiency.Case report: A 37-year-old patient was referred to an Endocrinology departm...

Introduction: Activating and inactivating mutations of the GNAS gene (encoding the Gsα protein) cause McCune–Albright Syndrome and Albright’s Hereditary Osteodystrophy, respectively. In both, the bone and the endocrine system are often affected. In McCune–Albright Syndrome the most common endocrine manifestation is precocious puberty, but thyroid lesions and hormonal overproduction are also described. In Albright’s Hereditary Osteodystrophy there m...

Introduction: Radioactive iodine (131I) therapy is a safe and cost-effective choice in Graves’ disease (GD). Usually only one treatment with 131I is sufficient, however, individual characteristics of the disease can lead to its recurrence. The aim of this study is to determinate the risk factors that influence the recurrence of GD after 131I.Materials and methods: Retrospective cohort study in 528 patients with GD who did <sup...

Background: Therapy with levothyroxine (L-T4) is essential in hypothyroidism treatment. The marked elevation of thyrotropin (TSH) in patients treated with appropriate doses of L-T4 is rare and can result from malabsorption, drug interaction or poor adherence. The non-adherence, omitted by the patient, is called pseudo malabsorption.Clinical report: ACCS, female, 30 years old, hospitalized for persistent...

Background: Continuous subcutaneous insulin infusion (CSII) using an external pump is an alternative intensive diabetes therapy recognized to improve metabolic control and glycemic instability in selected type 1 diabetic (T1DM) subjects. The aim of this study was to examine the clinical effectiveness and safety of CSII systems over a 5-year follow-up period in T1DM patients.Materials and methods: We performed a retrospective observational study of T1DM p...

Introduction: Atrial fibrillation (AF) is the most common cardiac complication of hyperthyroidism, with significant mortality and morbidity resulting from embolic events. In patients who attend at an emergency room (ER) with acute AF, the thyroid hormones aren’t usually evaluated given the low prevalence of hyperthyroidism in the general population.Aims: To assess the prevalence of thyroid dysfunction in adult patients who presented at an ER with ac...