Endocrine Abstracts

Mutation Y791F of RET protooncogene is a well known mutation so far described in families with FMTC and familial pheochromocytoma in one family. It activates the receptor in a monomeric form. Here we present eight unrelated families with the same mutation but different fenotype expression.Patients and methods: In last 20 years, we analyzed 216 patients with MTC (age range: 3–75 years, 45.0 mean). Genetic testing for mutation in RET pro...

We describe a 52-year-old woman, with acromegaly, clival chondroid chordoma, meningioma and lung carcinoid. There was no family history of MEN-1. She was diagnosed as acromegaly in 2000. Radiological evaluation (MRI) revealed pituitary tumor, however, another infiltration of scull base was detected which invaded sphenoidal and ethmoidal sinuses, lamina cribroza and bilateral orbit walls. Pituitary tumor was completely removed and the reduction of extra-sellar mass was performe...

The diagnosis of adult growth hormone deficiency (GHD) in patients with pituitary disease relies predominantly on provocative tests of GH secretion. The incidence of GHD in treated acromegalic patients has not been fully documented. Therefore, the aim of the present study was to elucidate GH response to insulin-induced hypoglycaemia (ITT, 0.15 IU/kg i.v.) in a cohort of 10 patients with acromegly considered cured solely by transsphenoidal surgery (6 females and 4 males, mean a...

Objectives: Women with polycystic ovary syndrome (PCOS) are at increased risk for cardiovascular disease. Aim of our study was to determine the frequency of cardiovascular risk factors using Framingham Scoring system (FSS) in PCOS and controls.Methods: FFS included age, value of cholesterol and HDL (mmol/L), smoking and systolic blood pressure (sysBP, mmHg). We also determined LDL (mmol/l), oxidized LDL (OxLDL, U/l) and triglycerides (mmol/l). We studied...

Introduction: Cortisol has important roles in the regulation of body composition and hypercortisolaemia have major impact on body fat distribution. The aim of this study was to analyze differences in adipose tissue distribution in women with Cushing’s disease and Cushing’s syndrome due to adrenal adenoma.Method: We evaluated 12 women with Cushing’s syndrome, six with ACTH secreting pituitary adenomas (Group A) and six with adrenal adenomas...

Introduction: Luteinizning hormone (LH/hCG) responsiveness has been documented in both normal and pathological adrenal glands, but it is unclear whether chronic exposure to LH could affect adrenal function by increasing LH receptor (LHR) expression.Subjects and methods: We studied 12 postmenopausal women with previously documented adrenal tumor. All patients underwent standard hormonal testing for assessment of tumor functionality. Then hCG test was perf...

Adrenocortical carcinoma (ACC) is rare malignancy associated with poor prognosis. The aim of this study was to present clinical characteristics and survival of patients with ACC and to analyse the effect of prognostic factors on survival.We retrospectively analysed 69 patients (46 female and 23 males) with pathologically confirmed ACC who were treated in our hospital between January 2005 and December 2015. The median age at diagnosis was 51,0 years (rang...

Introduction: Chromogranin A (CgA) is a major representative of the protein family named granins stored predominately in secretory granules of the diffuse neuroendocrine system. Circulating CgA serves as a biomarker of neuroendocrine tumors (NETs), but its increased plasma concentration is present in various cardiovascular, gastrointestinal, renal and inflammatory diseases. Intra-granular and/or extracellular proteolysis of CgA generates a variety of biologically active fragme...

Ghrelin is a somatotrophic, orexigenic and adipogenic hormone that has an important homeostatic role by linking regulatory systems for growth and energy balance. Ghrelin- secreting neuroendocrine tumors are rare, but we had the opportunity to study a 71 years old female patient with a gastric ghrelinoma. The patient was submitted to gastroenterological examination after having episodes of diarrhea, and small subepithelial polyp (5 mm) was revealed on gastroscopy. Pathohystolog...

Background: Ret protooncogene germ-line mutations are associated with the inherited multiple endocrine neoplasia type 2 syndromes (MEN2a and MEN2b) and also with familial medullary thyroid carcinoma (FMTC). In this study, we report a large scale of mutations in exon 10, 11, 13 and 14 RET protoocogene in patients from Serbia. Our study included patients with MTC.Methods: Our study included 180 patients. Patients were tested for RET protooncogene mutations...