Endocrine Abstracts

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: 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...

Introduction: Radiation therapy is an effective treatment for relapsing or recurrent pituitary functioning adenomas, providing tumor volume control and hormone secretion normalization. However, there are several secondary effects to consider.Aims: To assess the efficacy of radiotherapy in the management of patients with acromegaly and Cushing’s disease (CD) treated in our Department, and the prevalence of radiation secondary effects.<p class="ab...

Background: Pituitary apoplexy occurs when a tumor undergoes acute hemorrhage, infarct, or both. This often leads to acute severe symptoms (clinical) but can also occur without them and diagnosed on CT/MRI, surgery, pathology (subclinical). To investigate clinical and subclinical apoplexy in nonfunctioning tumors (n=221) from our database.Design: Retrospective review of clinical presentation, tumor characteristics and outcome of 24 patients, 11 fe...

Introduction: Primary aldosteronism (PA) is the principal cause of arterial hypertension potentially treatable. The diagnosis is dependent of tests to identify patients who will benefit most with surgical treatment. ACTH stimulation test (AST) has been described as a useful confirmatory test, potentially identifying bilateral disease in patients without adrenal tumors.Aim: Evaluate the AST in patients with hypertension and positive screening test for PA,...

IntroductionIn Klinefelter syndrome, hypergonadotropic hypogonadism is the most prominent endocrine-metabolic disorder. However, a higher prevalence of cardiovascular risk factors has also been reported.ObjectivesIn a sample of individuals with Klinefelter Syndrome (KS): – to document the diagnostic context; – to assess the prevalence of cardiovascular risk factors (CVRF) and compare it with a contr...

IntroductionNoonan syndrome can result from different mutations, the most frequent being in PTPN11. The diagnosis is often made by the clinical picture of short stature, facial dysmorphisms and heart defects. From an endocrine point of view, growth retardation, hypogonadism and a higher frequency of thyroid autoimmunity are highlighted.ObjectivesTo analyse endocrine features in patients with Noonan syndrome (...

Introduction: Graves Disease (GD) is an autoimmune disease, in which CD4+ Th2 cells secrete interleucin-4 (IL-4) and IL-5 and activate antibody production. IL-4 has been considered a therapeutic target for treatment of immune-related diseases, by enhancing and redirecting T and B cell function. Dupilumab, a monoclonal antibody, inhibits IL-4 and IL-13 and is currently used for treatment of atopic dermatitis, nasal polyposis and asthma. There is a single case report of painless...

Introduction: Giant prolactinomas (diameter >4 cm) account for less than 5% of all prolactinomas and are usually associated with markedly elevated prolactin (PRL) levels. Despite their benign nature, these tumors can be invasive, potentially leading to mass effect symptoms in affected patients.Case Report: We report a case of a 40-year-old male admitted to the emergency department with a one-week history of headaches, right palpebral edema, and ptosi...