Endocrine Abstracts

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...

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....

Cushing’s syndrome is a rare disorder in children and adolescents. The diagnosis can be a challenge for the clinician, as its principal feature – obesity – is extremely common. We present three cases diagnosed in the last 20 years. The first one was a boy aged 17 that presented in 1984 with central obesity, acne, moon face with plethora, abdominal striae, easy bruising and skin atrophy. The investigations performed consisted in cortisol and ACTH plasma measureme...

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...