Endocrine Abstracts

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 ...

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...

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...

Germline activating mutations of the RET proto-oncogene are associated with inherited medullary thyroid cancer (MTC) and can be also detected in about 10% of apparently sporadic MTC cases. In the present study, 4 novel RET mutations, located in the extracellular domain (A510V, E511K and C531R) and in the intracellular juxtamembrane region (L666N), all identified by the genetic screening on sporadic MTC cases, are firstly reported and functionally characterized. RET Plasmids ca...

Fetal cells enter the maternal circulation during pregnancy and can persist in the maternal blood or tissues for decades, creating a physiological microchimerism. Since papillary thyroid cancer (PTC) is more frequent in female gender and it is the second more frequent tumor during pregnancy, the role of persisting microchimeric cells has been investigated. Tumour tissue specimens were obtained from 62 women with PTC, 41 of whom had at least one male child before the diagnosis ...

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...

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...

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...