Endocrine Abstracts

Oxidative stress (OS) can have an impact both in the pathogenesis and in the progression of TC, as it has been shown to induce oncogenes and inhibit tumor suppressors. The main source of cellular ROS is represented by NADPH oxidases (NOXs). Aims of the study were to investigate the NOX-derived OS in TC samples, benign nodules and corresponding normal tissues, and to correlate the level of OS with histological classification, genetic profile and clinical and prognostic features...

There are growing evidences suggesting the existence of intra-tumor heterogeneity within the same patient, leading to a different genetic pattern between primary tumour and metastases.We report a paradigmatic example of genetic heterogeneity in thyroid cancer (TC). A 42 years old female patient was submitted, for a follicular TC, to total thyroidectomy and lymphadenectomy followed by radioiodine residue ablation in late 1999. In 2000 and 2001 diagnostic ...

TERT is the protein component of the telomerase enzyme and is overexpressed in many cancer types. The most well-known role for TERT is the regeneration of telomeres allowing the avoidance of senescence and the continued proliferation of stem and cancer cells. Recent studies have identified other roles for TERT in compartments outside the nucleus, in particular in mitochondria, with a protective role against endogenous and therapy-induced oxidative stress (OS). A small subset o...

Abstract: During hormonogenesis, thyroid cells are physiologically exposed to high levels of reactive oxygen species (ROS) which could either be involved in the pathogenesis of thyroid cancer or exert a cytotoxic effect. We analyzed the oxidative status of papillary thyroid cancer (PTC) either directly, by measuring H2O2 generation by NADPH oxidases (NOXs), and indirectly, by evaluating the antioxidant activity of glutathione peroxidase (GPX), which neutr...

Mutations in SLC26A4 cause Pendred syndrome (PS) and a non syndromic deafness associated with the enlargement of the vestibular aqueduct (LVAS). In many patients with a PS/LVAS phenotype, mutation screening of SLC26A4 fails to identify two disease-causing allele variants, suggesting that other genetic factors could be involved. Indeed, mutations in the SLC26A4 promoter (FBS1), in FOXI1, a transcriptional activator of SLC26A4, and in a K+ channel gene (KCNJ10) have been very re...

It is still debated if the coexistence of papillary thyroid cancer (PTC) with a thyroid autoimmune process is associated with a better or worst outcome. Moreover, though a direct relationship between oncogenes and the activation of a pro-inflammatory program has been documented, the genetic background of PTCs with associated autoimmunity is not known.Aim of the present study was to to investigate the clinical and molecular features of PTCs associated or ...

Complete androgen insensitivity syndrome (CAIS) is a rare X-linked disorder caused by androgen receptor gene (AR) mutations that result in complete impairment of genital virilisation. Usually CAIS patients, who have normal production of AMH by Sertoli Cells, do not show Mullerian derivatives, although the persistence of Mullerian duct derivatives up to now have been described in nine cases.Here, we report the case of a fetus aborted at 20 weeks for genit...

Background: Cytology is the gold standard method for the differential diagnosis of thyroid nodules, though 25−30% of them are classified as indeterminate and, in some cases, surgery is required for a definitive diagnosis. Aim: In order to reduce unnecessary thyroid surgeries, we set up a ‘thyroid risk score’ (TRS) to increase the diagnostic accuracy in a large series of patients with indeterminate cytology and to apply it to a validation ...

Congenital Hypothyroidism (CH) is the most common congenital endocrine disease and avoidable cause of severe mental retardation. The CH pathogenesis may include the contribution of genetic and environmental factors. However, causal mutations have been found in a minority of cases. Moreover, the elevated frequency of discordance for CH phenotype between monozygotic (MZ) twins suggests the involvement of non-Mendelian mechanisms. Aim of this study was to investigate the role of ...

Recently, the G534E variant of the HABP2 gene was reported as the underlying genetic defect in large kindred with non-syndromic familial non medullary thyroid cancer (FNMTC), but these data were not confirmed in additional cohorts. Consistently, we found in our wide series of FNMTC that the HABP2G534E variant is frequent, but does not segregate with the disease. Nevertheless, a possible role for this gene in the pathogenesis of FNMTC cannot definitely ruled out also because co...