Endocrine Abstracts

Introduction: Intronic BclI polymorphism of glucocorticoid receptor (GR) gene and adrenal adenomas of incidental discovery are frequently associated with metabolic syndrome. We studied in these patients metabolic and hormonal parameters, the sequence alteration in BclI polymorphism of the GR gene from constitutive DNA and the expression of Hsp70 within the tumor and in tissue adjacently to tumor.Patients and methods: We assessed 114 healthy...

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...

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...

Introduction: Hypothalamo-pituitary-adrenal (HPA) axis dysregulation could be a link between polycystic ovary syndrome (PCOS) and cardiometabolic and psychological complications associated with disease.Methods: We analyzed 50 women with PCOS according to ESHRE/ASRM criteria [age 28.66±5.61, body mass index (BMI) 21.94±3.38 kg/m2] and 50 BMI- and age-matched healthy women (control group, CG), (age 28.66±5.63, BMI 22.09±3.70 ...

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...

Introduction: Acute hepatic porphyria is a relatively rare metabolic disorder. Its typical clinical manifeastations are abdominal symptoms and/or troubles belonging to the cerebral oedema. Clinical picture of acute abdomen is frequent and unsuccessful surgical treatment leads to the diagnosis of porphyria.Case description: Female, born in 1987, presented in emergency surgical unit as appendictis. She was operated but the problems did not disappear. After...

Germline ARMC5 mutations have been described as the most frequent genetic abnormality found in patients diagnosed with primary bilateral macronodular adrenal hyperplasia (PBMAH). PBMAH is a rare etiology of Cushing’s syndrome. This gene has been proposed to acts as a tumor-suppressor gene. A 36-years old female presented to us with clinical signs of hypercortisolism. ACTH dependent Cushing’s syndrome was confirmed soon after. Pituitary magnetic resonance imaging (MRI...

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...

Introduction: Oligomenorrhoea have negative impact on bone mineral density (BMD). The aim of this study was to analyze BMD in oligomenorrhoeic women with polycystic ovary syndrome (PCOS), and healthy controls with regular menstrual cycles.Methods: We analyzed 29 women with PCOS diagnosed using ESHRE/ASRM criteria (age: 23.6±4.7 years, BMI: 24.9±6.1 kg/m2) and 22 healthy BMI-matched controls (HC) (age 31.6±6.3 years, BMI 24.9&#17...