Endocrine Abstracts

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: X-linked adrenoleukodystrophy (X-ALD) is caused by a mutation in the ABCD1 gene, which encodes for a peroxisomal very long chain fatty acid (VLCFA) transporter. Clinically, X-ALD can present a wide spectrum of phenotypes, being the most frequent Adrenomyeloneuropathy, with ataxia, spastic paraparesis, sexual and sphincter dysfunction. Adrenocortical insufficiency (AI) occurs mainly in paediatric age and it can be the first manifestation of the disease in some cas...

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...

Introduction: Gestational diabetes (DG) is associated with higher risk of diabetes mellitus (DM), and it’s recommended to perform an oral glucose tolerance test (OGTT) with 75 g after delivery to its reclassification. However, not all scientific societies recommend it.Aim: To evaluate glucose tolerance with OGTT after delivery in women with DG and the risk factors to glucose intolerance in glycaemia at 120′.Methods: Retr...

Introduction: Type 1 Diabetes (DM1) is associated with a destructive autoimmune process of pancreatic b-cells. The presence of anti-islet cells (ICA) antibodies (Ab), as well as for distinctive antigens – GAD65, IA2 or Insulin (IAA) - is related to the disease development.Aim: To evaluate the effect of DM1 antibodies on the measures of glycemic variability (GV) obtain through continuous glucose monitoring (CGM).Materials and m...

Introduction: Pituitary apoplexy (PA) is an endocrine emergency and usually presents with sudden headache and visual fields changes. Pituitary function assessment should be performed promptly and repeated throughout follow-up, regardless of the choice of treatment.Methods/design: Retrospective analysis of patients diagnosed with PA admitted to an Endocrinoloy Department of a tertiary hospital between 2002 and 2017. Review of patients’ medical record...

Introduction: Diabetes mellitus (DM) is frequently associated with vascular complications including diabetic microangiopathy. Nailfold capillaroscopy is a useful non-invasive diagnostic tool to identify changes in the microvascular architecture. Published literature hints at the presence of nailfold circulatory morphologic changes in diabetic patients.Objective: The purpose of the study was to identify by nailfold capillaroscopy microvascular changes in ...