Endocrine Abstracts

Background: Several susceptibility genes have been found to be associated with development of pheochromocytoma (PHEO): RET, VHL, SDHB and SDHD. We investigate the frequency of germ-line mutations in SDHB and VHL genes in patients with apparently sporadic PHEO.Material and methods: Fifty patients (38 women, mean age 42) with apparently sporadic adrenal and extra-adrenal PHEO were screened. DNA was extracted from whole blood and from paraffin embedded tumo...

A 34-year-old woman was initially presented with clinical signs of Cushing’s syndrome (CS). On endocrinological examination, a diagnosis of ACTH dependent CS was established (serum cortisol: 08.00 h: 1245 nmol/l; 24.00 h: 275; plasma ACTH concentration 104 ng/l; inadequate cortisol suppresion on LDDST (787) and suppresion to 318 following HDDST). A magnetic resonance imaging (MRI) confirmed a microadenoma in the left part of the pituitary. Ultrasound examination confirmed...

Background: Mutational screening of the MEN1 gene has been recommended for patients who fulfill clinical criteria for familial or sporadic MEN1 and those suspicious or atypical of MEN1.Patients and methods: Eighteen apparently unrelated individuals (6 males; 12 females, age range 16–71) with clinical manifestations of MEN1 were analised. In addition, we evaluated 7 relatives. Genomic DNA from peripheral blood leucocytes was extracted using st...

Several RET proto-oncogene germline mutations with dominant inheritance, predispose to hereditary medullary thyroid carcinoma (MTC), and whether the MTC is sporadic or hereditary should be determined by a direct analysis of the RET proto-oncogene. 85% of MEN IIA patients and 30% of patients with familial medullary thyroid carcinoma have mutations at codon 634 (exon 11). In 88 consecutive patients with MTC, the characterization of RET mutations in exon 11 had been done by PCR w...

Interindividual variations in tissue sensitivity to glucocorticoids have been partly attributed to polymorphisms in the glucocorticoid receptor (GR) gene. The aim of this study was to investigate the prevalence of subclinical hypercortisolism (SH) in women with adrenal incidentaloma (AI), and whether BclI variant of the GR gene may contribute to metabolic abnormalities frequently present in these patients. We evaluated 106 women with AI. Anthropometric characteristics...

Pheochromocytomas and sympathetic paragangliomas are rare catecholamine-secreting tumors and represent very rare causes of intracerebral hemorrhage in young. Few cases of these neuroendocrine tumors which presented with intracerebral hemorrhage have been reported. A 32-year-old man presented to our emergency department because of sudden onset of severe headache. He has a six months history of headache, palpitations and sweating. During examination he became somnolent and devel...

Transition from childhood to adulthood is particularly important in patients with COGHD mainly because of the associated metabolic abnormalities, inadequate body composition and decreased bone mineral density (BMD). There is a lack of large monocentric studies related to this issue.Design: Monocentric, observational, retrospective cross-sectional study.Patients: We collected 85 COGHD patients (58 males, aged 17–26 years) trans...

IntroductionHyponatremia is frequently encountered in clinical practice. Euvolemic hyponatremia (Syndrome of Inadequate Antidiuresis, SIAD) represents diagnostic and management challenge regarding etiology unraveling, its gradual acute substitution, and later causal treatment.Case reportA 68-year-old woman was admitted to the Emergency unit with acute psychosis. On examination, there were no focal neurologica...

IntroductionHematological neoplastic mass lesions of the sellar region are rare.Aim of the studyTo analyze a case series of patients with hematological malignancies affecting sellar region.Patients and methodsA retrospective study of 1166 patients with sellar lesions diagnosed at Department of Neuroendocrinology over the 16-year period (2005-2020).The demographics...

Introduction: Hashimoto thyroiditis (HT), chronic autoimmune disease, is related with impaired quality of life (QoL) regardless of euthyroid state. Some studies showed decreased levels of vitamin D in patients with HT which implies there is a relationship between vitamin D deficiency and HT. It remains unclear whether decreased levels of vitamin D are result of autoimmune process or are part of its cause.Aim: To investigate effect of vitamin D levels on ...