Endocrine Abstracts

Introduction: Adrenal hematomas are very rare entities. They occur often associated with: trauma, anticoagulation, coagulopathy, septicemia, pregnancy complications or tumors. When none of these predisposing factors is present, diagnosis and treatment can become a real challenge.Case report: A 19-years-old woman presented with complaints of asteny, loss of appetite, loss of 10 kg in a month, and pain in right lumbar and abdominal regions. No other compla...

Pheochromocytomas are rare, catecholamine-secreting, adrenal neoplasms. In about 25% of cases they arise in patients with germline mutations. Malignancy occurs in about 10%.We retrospectively analysed the records of patients with histological diagnosis of pheochromocytoma submitted to adrenal surgery between 1987–2008 and followed in the Endocrinology department.Thirteen patients were included. We evaluated age on diagnosis; c...

Background: Von-Hippel-Lindau disease (VHL) is a rare (1/36.000 newborns), autosomal, dominant inherited tumour syndrome. A germline mutation in VHL tumour suppressor gene predisposes carriers to tumours in multiple organs. In the presence of positive family history, it can be diagnosed clinically in a patient with at least one typical VHL tumour.Clinical report: In December 2007, a 34 years-old women presented with palpitations and tachycardia, but norm...

Introduction: Type 1 diabetes is one the most common chronic diseases found in children and youngsters.Objectives: Characterization of a sample of young type 1 diabetic patients, treated with multiple daily injections of insulin.Patients and methods: Analysis of patients files with ages between 11 and 26 years observed on diabetology consultation during the first semester of 2008, with diagnosis of diabetes for at least 6 months. P...

Objectives: To determine the prevalence of several polymorphisms associated with increased cardiovascular risk in a group of adolescents with T1DM. To study the possible association of some polymorphisms with the occurrence of microvascular complications.Methods: Patients were randomly selected from our outpatient clinic. The following polymorphisms were studied:: ACE Ins/Del, Apo B R3500Q, Apo E2, 3, 4, MTHFR C677T and A1298C, PAI 4G/5G, ITGB3 PL(A1)/(A...

In Portugal, no relevant epidemiologic data exists relative to the management and level of control of diabetic patients.TEDDI, a non-interventional cross-sectional study, allowed to characterize the usual management of type 1 (T1D) and type 2 (T2D) diabetes using a standardized questionnaire in 1775 patients (F: 47.5%; T2D: 80.8%) aged 18 years or older, visiting their diabetes specialist (n=180).Data was obtained for metabo...

Goal: The aim of this study was to find different characteristics between GDM women aged under (GDM A n=23) and above 28 years (GDM B n=107), followed in our department in 2005.Material and methods: We performed ANOVA comparisons and computed Pearson correlations/linear regressions between womens’ age and BMI, O’ Sullivan test, OGTT 0 h, 1 h, 2 h and 3 h, new born weight and the need of insulin.Results: BMI ...

Resistance to thyroid hormones (RHT) is a rare syndrome, with autosomic dominant transmission, due to mutations in thyroid hormones beta-receptor gene. Clinical presentation is variable for the same mutation. This hypothesis must be considered in presence of high levels of thyroid hormones and TSH not suppressed.The evaluation of a 15-year-old female patient, in 1990, harbouring a thyroid nodule, secondary amenorrhea and visual and auditory impairment sh...

Objective: The pathogenesis of pituitary tumours is still incompletely understood. Somatotropinomas occur both sporadically and in the context of familial syndromes, such as multiple endocrine neoplasia type 1 (MEN1), Carney complex (CNC) and isolated familial somatotropinoma (IFS). Recently, germline mutations were reported in AIP (aryl hydrocarbon receptor interacting protein) gene in Finish and Italian families and in Finish patients with apparently sporadic pituitar...

Introduction: Kallmann Syndrome (KS) consists of hypogonadotropic hypogonadism and anosmia, and is 5 fold more prevalent in males. There is a considerable clinical and genetic heterogeneity and a crescent interest in autosomal genes. The FGFR1 gene, located on the short arm of chromossome 8, encodes a glycoprotein fibroblast growth factor receptor and FGFR1 mutations has been identified in 10% of KS patients. The clinical picture include typical KS and associated features....