Endocrine Abstracts

Familial medullary thyroid carcinoma (FMTC) is an autosomal dominant inherited disease, characterized by germ-line mutations in the RET proto-oncogene, mainly in exons 10 and 11, but also in exons 13, 14 and 15. Recently, there were described also mutations in exon 8 and 16 associated with FMTC. In our laboratory the screening of six risk exons of the RET proto-oncogene in 141 families with MTC was performed. 10 families were classified as clinically FMTC. In 4 of them mutatio...

Aim: To compare influence of transdermal versus peroral estrogen treatment on insulin sensitivity, lipid and hormonal levels in women affected with polycystic ovary syndrome (PCOS).Patients and Methods: 17 women with PCOS, age 24.8 (4.2) years, BMI 24.15 (3.68) were randomly assigned either for peroral (8) or transdermal (9 patients) estrogens in conjunction with cyproteronacetate. In the early follicular phase of menstrual cycle before and then after 3 month of treatment ...

The relationship of insulin resistance, androgens and endothelial dysfunction in polycystic ovary syndrome ,PCOS, is controversial till now. We evaluated if ICAM-1 levels differ between PCOS and healthy women and whether this marker of the early endothelial damage is associated with the particular metabolic and/or hormonal characteristics.After signing written informed consent, 39 PCOS women -median of age 25 yrs, BMI 24.9 and 10 age matched healthy wome...

The A-3826G gene polymorphism of the uncoupling protein 1 (UCP1) causes the lower expression of UCP1 in visceral fat and reduced energy expenditure. Peroxisome proliferator activated receptor gamma 2 (PPARG2) plays a role in the regulation of the adipocyte differentiation and energy balance. The Pro12Ala polymorphism is associated with better insulin sensitivity. We compare the genotypic distribution of these polymorphisms in PCOS and controls and study their possible associat...

Introduction: Activating point mutations in the RAS genes (H-RAS, K-RAS, N-RAS) are reported in thyroid tumors. The aim of this study was to determine the frequency of RAS mutations in 98 patients with thyroid tumors.Methods: DNA was extracted from 72 fresh frozen thyroid samples and 26 paraffin-embedded formalin-fixed samples. The cohort contained 83 PTCs (56 FVPTCs, 14 mixed follicular-classical types, 11 classical variants and two other rare variants)...