Endocrine Abstracts

Introduction: Tumor-induced osteomalacia (TIO) is a paraneoplastic syndrome due to an overproduction of fibroblast growth factor 23 (FGF23) by small and benign mesenchimal tumors. FGF23 increase causes hypophosphatemia, osteomalacia and muscle weakness. TIO is usually cured by tumour resection, but neoplasms may be unidentifiable/unresectable or the patient may refuse surgery. In these cases, medical treatment with high doses of oral phosphate and calcitriol is mandatory, even...

Introduction: Magmas encodes for an integral constituent of the TIM23 translocase complex located in the mitochondrial inner membrane that drives proteins from the intermembrane space into the mitochondrial matrix by functionally interacting with Tim14. We previously demonstrated that Magmas silencing is able to sensitize ACTH-secreting mouse pituitary adenoma cells to pro-apoptotic stimuli, reduce DNA synthesis, accumulate cells in G0/G1 phase with concomitant decrease in S p...

The change of aminoacid Arginine (CGG) to Glutamine (CAG) at position 171 (R171Q) in the MEN1 gene has been occasionally reported in MEN1 carriers, but also in 1.4 to 5% subjects among the general population, therefore it is still unclear whether it might represent a polymorphism and/or it has a role in tumourigenesis. The aim of our study was to evaluate the presence of the R171Q polymorphism in patients with MEN1-related states presenting for MEN1 genetic screening. F...

Glucose metabolism alterations are frequently observed in acromegalic patients. Somatostatin analogues (SSTA) are the most widely used drugs to treat acromegaly, since they inhibit GH and IGF-1 levels, reduce pituitary mass, but can affect glucose metabolism. Aim of our study was to evaluate glucose metabolism alterations in acromegalic patients cured after surgery and in patients with active disease during treatment with SSTA. We studied 10 patients (group A, 5F, 55.66±1...

IntroductionTypical bronchial carcinoids (TBC) are rare well-differentiated neuroendocrine neoplasms (NEN) of the lung whose management can still be very challenging. In fact, the gold-standard treatment for TBC is total resection of the primary tumour; however, in case of metastatic disease adjuvant therapy with the mTOR inhibitor everolimus (eve) might be recommended. Unfortunately, prognosis may be very poor in cases showing moderate response rates to...

Introduction: Thalassaemia syndromes are a group of inherited haemolytic disorders determining chronic anaemia, iron overload and organ damage (through the production of ROS), necessitating of iron chelation therapy. Nowadays, there is scant knowledge on hypercalciuria in thalassaemic Western patients. Therefore, aim of our study was evaluating the prevalence of hypercalciuria and identifying risk factors and clinical consequences associated with its development.<p class="...

Protein kinase C (PKC) is a family of serine-threonine kinases that regulate many cellular processes including proliferation and survival. Previous evidence has shown that PKC is involved in the control of human medullary thyroid carcinoma (MTC) proliferation and survival by modulating apoptosis, with a mechanism that implicates PKCβII isoform and translocation in different subcellular compartments.In this study, we investigated the role of PKC&#948...

Mitotane therapy is associated with many side effects, including thyroid function perturbations mimicking central hypothyroidism, possibly due to laboratory test interference or pituitary direct effects of mitotane. Therefore, we aimed at investigating whether increasing concentrations of mitotane in the therapeutic range might interfere with thyroid hormone assays and evaluate the effects of mitotane on a mouse TSH- producing pituitary cell line. TSH, FT4 and FT<su...

Familial pituitary adenoma is frequently associated with germinal mutations of several genes, including menin gene. MEN1 syndrome is an autosomic dominant disease, characterized by parathyroid adenomas, endocrine gastroenteropancreatic tumors, and pituitary adenomas, due to inactivating mutations of the MenI gene (11q13). MEN1 mutations are scattered within and around the menin open reading frame and are mainly represented by single nucleotide polymorphisms (SNPs), and ...

Pituitary tumour transforming gene 1 (PTTG1) is over-expressed in a variety of endocrine-related tumors. We investigated PTTG1 expression in human C-cell hyperplasia (CCH), human medullary thyroid carcinoma (MTC) and in the human MTC cell line, TT. PTTG1 expression was significantly higher (P<0.01) in CCH (threefold), in papillary thyroid cancer and in MTC (fivefold) than in normal thyroid, and in MTC lymph-node metastases as compared to primary lesions (approximate...