Endocrine Abstracts

Radioiodine (131I) administration has been found to be effective in the treatment of hyperfunctioning and normofunctioning multinodular goiter. Moreover, lithium therapy has been shown to enhance the radioiodine efficacy and to reduce the transient thyrotoxicosis induced by radioiodine.Aim of the present study was to evaluate the long term efficacy of 131I with or without lithium administration in the treatment of non toxic multinod...

Sunitinib (SU11248) is a multitarget inhibitor of tyrosine-kinases (RTK) recently tested in clinical trials for the treatment of some human cancers. Side effects are mostly represented by asthenia and appear in a dose and time correlated manner. After the unexpected observation of a myxedematous coma in a patient affected with GIST and treated with Sunitinib, we evaluated the effect of this drug on thyroid function in 24 patients treated for GISTs Imatinib resistant. Patients ...

The cut-off values able to differentiate between reactive or neoplastic C cell hyperplasia (CCH) or to predict sporadic medullary thyroid cancer (MTC) are still debated both for basal and stimulated calcitonin (bCT and sCT). Aim of the present study was to define the prevalence and the histological patterns of CCH in 15 patients with multinodular goiter (MNG), bCT>10 pg/ml and sCT levels >50 pg/ml. These data were compared with those from 16 patients with MNG and bCT l...

Activating mutations of the RET proto-oncogene, encoding a tyrosine kinase receptor, are associated with inherited syndromes, MEN2A and MEN2B, and with both familial and sporadic medullary thyroid cancer (MTC). Single base-pair missense mutations in the extracellular cysteine-rich domain are responsible for the majority of MEN2A and familial MTC (FMTC) cases. Rarely, somatic deletions and germline duplications of variable segments of the gene have been reported in spora...

Congenital hypothyroidism (CH) affects 1:2.000–3.000 newborns. In most cases, the cause is a developmental defect (dysgenesia) or an arrested migration (ectopia) of the thyroid gland. In the remaining cases TSH resistance or defects in iodide transport or thyroid hormonogenesis account for CH. The differential diagnosis is aimed to recognize permanent CH forms and to achieve an etiologic diagnosis for accurate management and genetic counselling. Appropriate investigations...

The UK newborn screening programme for congenital hypothyroidism (CH) facilitates prevention of neurodevelopmental delay in CH by enabling prompt diagnosis and treatment. Although the UK Newborn Screening Programme Centre (UKNSPC) defines a borderline bloodspot screening TSH (bsTSH) concentration as 10–20 mU/l, the lower cutoff used at Great Ormond Street Hospital (6 mU/l), enables diagnosis of true and transient CH in cases missed using UKNSPC criteria. We hypothesised t...

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...

Selpercatinib is a specific RET inhibitor, highly effective in the treatment of advanced RET-mutant medullary thyroid carcinoma (MTC). The consequences of selpercatinib administration in MTC patients who have not undergone thyroid surgery are still unknown. We report the case of an 84-year-old man undergoing investigations for worsening diarrhea and weight loss. Upon a neck ultrasound scan and blood exams that pointed out high levels of both calcitonin (CT, 20.583 ng/l) and ca...

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...