Endocrine Abstracts

Thyroid dysgenesis accounts for 75% of all cases of congenital hypothyroidism (CH), and includes thyroid agenesis or hemiagenesis, thyroid hypoplasia, and thyroid ectopy. Thyroid transcription factors TTF-1, TTF-2 and Pax-8, which are involved in the development of the thyroid gland and its normal migration, have been indicated as the best candidate genes but have been found to be mutated in a minority of cases. Sonic Hedgehog (Shh) protein is involved in several key events du...

Central Hypothyroidism (CeH) is a rare thyroid hormone production defect due to an insufficient stimulation of a normal thyroid gland. Candidate genes for isolated CeH include TSHβ (several cases reported) and TRHR (only one case reported so far). Here, we report the clinical and genetic studies in 2 males and 3 females affected with isolated CeH with normal/low TSH levels (0.05–0.95 mU/L) and low FT4 levels (3.6–4.6 pM). None of the patients was detected at neo...

Objectives: Well differentiated thyroid cancers (WDTC) are generally sensitive to first line treatments or eventually to tyrosine kinase inhibitors (TKIs). However, a part of WDTC together with poorly differentiated (PDTC) and anaplastic (ATC) thyroid cancers are particularly aggressive and refractory to all treatments, TKIs included. Since TKIs resistance is proven to be related with the presence of TP53 mutations in other tumours, and TP53 alterations are f...

Context: A variety of thyroid disorders have been documented in COVID-19 patients, including non-thyroidal illness syndrome (NTIS), subacute thyroiditis (SAT) and thyrotoxicosis.Objectives: To investigate the relationship between thyroid dysfunctions observed during hospitalisation and COVID-19-related morbidity and mortality.Study design and setting: Prospective cohort study on patients admitted in a tertiary hospital for COVID-19...

The diagnosis of indeterminate thyroid nodules is a challenge in cytopathology practice. To increase the diagnostic accuracy in these cases, we previously set up a ’thyroid risk score’ (TRS), derived from the sum of the scores assigned to: cytology + EU-TIRADS classification + nodule size + molecular profile. In the present study we prospectively validated the reliability of the TRS in the clinical practice. From 2018 to 2022 we evaluated 354 indeterminate nodules (2...

FAM83B has been recently identified as an oncogene involved in the development and progression of several malignancies, but its role in thyroid cancers (TC) is still unclear. In the present study, we examined the expression of FAM83B and its possible involvement in cell migration and differentiation, in neoplastic and normal thyroid tissues and in TC human cell lines. We found that FAM83B expression in TC varies according to tumor histotype, being si...

Background: Resistance to thyroid hormone (TH) beta (RTHβ), caused by mutations in THRB, is characterized by elevated serum (F)T4 accompanied by non-suppressed TSH concentrations. Disease features arise from variable resistance to TH action in tissues expressing Thyroid Hormone Receptor (TR) β (hypothalamus, pituitary, liver) and from thyrotoxic effects in tissues expressing TRα (heart, bone, brain). In symptomatic patients, treatment mainly involves be...

Most adrenal incidentalomas are benign and can be divided into nonfunctioning adrenal tumors (NFAT) and tumors with mild autonomous cortisol secretion (MACS). Several studies suggest that MACS may result in an increased risk for mortality and cardiometabolic disease. The cardiometabolic risk in MACS is possibly related to the increased frequency of cardiovascular risk factors such as diabetes mellitus (DM) and hypertension (HT) induced by cortisol excess. This is confirmed by ...

Background: As of December 2019, the COVID-19 pandemic has spread rapidly, therefore Governments from all over the world promoted a strategy of social confinement through a general lockdown in order to contain it. During the months following its introduction, many studies reported a significant increase in the incidence of idiopathic central precocious puberty (CPP) throughout several countries, especially in girls.Purpose: The aim of our study was to co...

Introduction: Cells with stem-like properties have been reported in benign and malignant thyroid diseases, and can be propagated by culturing them as non-adherent spheres.Design: Aim of the present study was to widely characterize the stem-like cells in tumor and normal thyroid tissues and in the corresponding in vitro-cultured thyrospheres, and to investigate in vivo the proangiogenic potential of thyrospheres in a zebrafish model....