Endocrine Abstracts

Introduction: Pituitary adenomas (PA) represent approximately 15% of all intracranial neoplasms, with a global incidence of 15,20 per million per year. The immunohistochemical analysis of PA is necessary for diagnosis and plays an important role in the modern classification system of pituitary tumors.Material and methods: Samples from 142 surgically resected PA were studied immunohistochemically using antisera for 6 anterior pituitary hormones. Reticulin...

The factors triggering pancreatic neuroendocrine tumor (PanNET) progression are largely unknown. Here we investigated the role and mechanisms of the sumoylation enhancing protein RSUME in PanNET tumorigenesis. Immunohistochemical studies showed that RSUME is strongly expressed in normal human pancreas, in particular in β-cells. RSUME expression is reduced in insulinomas and is nearly absent in other types of PanNETs suggesting a role in PanNET tumorigenesis. In human panc...

Many patients with primary adrenal insufficiency (Addison’s disease) take extra doses of glucocorticoids before or during stressful events, but benefit has not been demonstrated. We aimed to test the effect of an extra dose of glucocorticoids on cardiorespiratory, hormonal and metabolic parameters in response to physical activity in a randomised placebo-controlled, 2-weeks cross-over, clinical trial (clinicaltrials.gov NTC01847690). Ten women with Addison’s disease a...

Introduction: Nijmegen breakage syndrome(NBS) represents a rare autosomal recesive disorder, characterized by severe chromosomal instability. It is caused by mutations in the NBN gene, which product, nibrin, belongs to the hMre11/hRad50 protein complex, critical for processing DNA double-strand breaks during mitotic and meiotic recombination. The hallmarks of NBS are growth retardation, microcephaly, premature ovarian failure(POI) in females, immunodeficiency and predispositio...

Introduction: Thyrotropin-secreting pituitary tumors (TSH-omas) are a rare disorder and an infrequent cause of hyperthyroidism. The prevalence in the general population being 1 to 2 cases per million. However, recents studies have demonstrated an increase of TSH-omas over time. The increased number of cases principally results from the ultrasensitive TSH immunometric assays and from improved general practioner endocrinologist awaress. There is an inappropriate secretion of TSH...

Background: Association of differentiated thyroid carcinoma (DTC) and cortisol-producing adrenal adenoma is not part of the classical MEN syndromes. We present a clinical case raising the question of a common etiology for these tumours.Case Presentation: A 58-year-old female presented in 2010 for the investigation of a 6 cm left adrenal tumour incidentally discovered by abdominal CT. Medical history included smoking, obesity, myocardial infarction, hyper...

Introduction: 48, XXYY is a rare sex chromosome aneuploidy, being estimated to occur in 1:18000–1:40000 male births. Phenotypically it was considered a variant of Klinefelter syndrome (47,XXY), but currently, due to mental deficiency and behavioural characteristics associated, it’s considered to be a separated genetic condition.Case report: We report a case of a 8-year-old boy, first child of a young non-consanguineous couple, born at term. Due...

Medullary thyroid carcinoma (MTC) is a rare neuroendocrine tumor derived from the thyroid C cells producing calcitonin, ac-counts for 0.6% of all thyroid cancers. It occurs either sporadically or in a hereditary form (RET mutation). MTC can be cured only by complete resection of the thyroid tumor and any loco-regional metastases. Calcitonin (CT) measurement is crucial to the early diagnosis and the follow-up of MTC. If the evaluation of stimulated CT levels is required, a prov...

Abstract: Medullary thyroid cancer (MTC) is a highly aggressive neuroendocrine tumour originating in the thyroid parafollicular cells. Calcitonin measurement and RET gene ascertainment have been used as markers for early diagnosis of MTC. Since pentagastrin is not available, calcium stimulation test helps to preclude ‘gray zone’ values of basal calcitonin, diagnose minimal residual disease and help the early diagnosis of C cell hyperplasia.Aim:...

Introduction: Agonist receptor-GLP1 (AR-GLP1) had demonstrated its utility in obese patients with diabetes type 2. Since August 2013 we have available in Spain a new AR-GLP1 with prandial action in a single daily dose, lixisenatide. There are different clinical trials that support its efficacy and security but the dates from real clinical practice are scarce.Aim: To analyse the efficacy and security in real clinical practice for the treatment of diabetic...