Endocrine Abstracts

Sex steroid hormone-induced variations of vascular smooth muscle cells (VSMCs) migration are critical in determining the sex/gender-related differences in male and female pathophysiology of cardiovascular system. Although several substances present in the environment, defined endocrine disruptors (EDs), could interfere with androgen and estrogen effects, the sex/gender-related susceptibility of VSMC motility to these substances is completely unknown. Here, naringenin (Nar) and...

Introduction: The detection of a unique genetic marker is not possible for multifactorial diseases, such as thyroid cancer (TC), where the pathological phenotype is given by the contribution of multiple genes, environmental factors and lifestyle. We found a mathematical model for inferring the risk of thyroid cancer, an example of multifactorial disease.Methods: Genetic data represented by 184 SNPs associated to thyroid tumors were used for Bayesian clus...

Introduction: Reproduction exhibit a regular cyclicity and is regulated by complex interactions between circadian signals, gonadotropins and sex steroid hormones. Peripheral circadian rhythm is generated upon cyclic transcription of clock genes expressed in several cells, e.g. granulosa cells in the ovary. Here we investigated whether cyclic intracellular events occurring in response to gonadotropins are linked to expression of clock genes.Methods: Prima...

Introduction: The use of multigene panels in thyroid nodule diagnosis is still limited, due to high costs and need for ad hoc sampling. Since BRAF-V600E is the commonest genetic alteration in differentiated thyroid cancer, this is the mostly tested genetic parameter in clinical practice.Aim: To evaluate the use of BRAF mutation analysis in wash-out liquid from fine needle aspiration (FNA) in clinical practice, characterizing th...

Introduction: At present, only eight men with loss-of-function mutations in the CYP19A1 gene have been described. Here we report the genetic study of four adult men with undetectable serum estrogens, unfused epiphyses, eunuchoid skeletal proportions, continuing linear growth, tall stature, genu valgum, osteoporosis, obesity and achantosis nigricans. Patient 1 (26-years/182 cm) and 2 (28-years/187 cm) are from Turkey with a history of consanguinity. Patient 3 (44-years...

Objective: Thyroid fine-needle aspiration (FNA) cytology is indeterminate in 15–25% of cases. Recently, cytological analysis was combined to molecular analysis to improve diagnostic accuracy. In the present study, washing liquid of FNA (wFNA) samples were tested for the BRAF V600E mutation, using high resolution melting (HRM) technology. The aim of this study was to demonstrate whether BRAF mutation analysis is accurate in wFNA and, when combined with cytological analysis...

Introduction: FSH acts on its receptor (FSHR) resulting in signal transduction activation, gene expression and steroidogenesis. The FSHR common SNP p.N680S is a marker of gonadal response in vivo. However, in vitro dose–response experiments failed to demonstrate the molecular basis thereof so far. In this study, we systematically investigated whether p.N680S mediates different kinetics of FSH response in vitro.Des...

Introduction: Papillary thyroid carcinoma (PTC) is the most common endocrine malignancy, with a steadily increasing incidence in the last few decades worldwide. Studies revealed the predisposition to PTC by the heterozygous state of rs2910164 within the precursor of microRNA146a. Interestingly, on the same chromosome, 40Kb separate the pre-miR-146a from the pituitary tumour transforming gene (PTTG1), a proto-oncogene involved in thyroid carcinomas. A genome-w...