Endocrine Abstracts

Approximately 25% of the reported cases of MTC are familial. Familial MTC can occur as part of MEN2-syndrome or as familial MTC alone (fMTC) defined as more than ten carriers in the kindred, or multiple carriers or affected members over the age of 50 with an adequate medical history excluding pheochromocytoma. The vast majority of MEN2 families (98%), as well as fMTC kindreds (88%) harbour a RET mutation. In MEN2A, mutations at codon-634 (exon-11) account for 85% of all mutati...

Introduction: The combination of chemotherapy with prophylatic cranial radiotherapy (C-RT) allowed the improvement of survival rates of pediatric acute lymphoblastic leukemia (ALL) survivors while putting them at risk of develeping long-term endocrine deficiencies, like growth hormone deficiency (GHD).Current evidence suggests that the prevalence of GHD in children treated with radiation doses ≥ 30–50 Gy for non-pituitary brain tumors is...

Introduction: Everolimus is an oral mTOR inhibitor that exerts antineoplastic effects inhibiting cell proliferation, survival and angiogenesis. Its activity in advanced neuroendocrine tumors (NETs) has been demonstrated in controlled trials and everolimus was approved by the FDA for the treatment of progressive, advanced pNETs in May 2011.Materials and methods: We treated with everolimus, at the dosage of 10 mg once daily, 14 patients with advanced, prog...

Introduction: The main goal in the treatment of acromegaly is achieving biochemical and tumor mass control. Therapeutic options include surgery, medical treatment and, in selected cases, radiotherapy. A GH receptor (GHR) variant that differs for the genomic retention or exclusion (d3GHR) of exon 3 is present in about 50% of general population and its presence is related to a greater sensitivity to GH.Materials and methods: We describe a series of 118 pat...

Introduction: The availability of the body’s most abundant amino acid, glutamine is compromised in obesity-associated diabetes. This may impair glucose metabolism by increasing hepatic insulin resistance, oxidative stress and the development of nonalcoholic fatty liver disease (NAFLD).Objective: Evaluate the effects of free and dipeptide (DIP, L-alanyl-L-glutamine) forms of L-glutamine on glucose metaboli...

Introduction: Heterozygous mutations in the AIP gene are associated with young-onset pituitary adenomas while homozygous loss of AIP in animal models is lethal. As early diagnosis could lead to better outcomes, family members of AIP mutation-positive patients need follow up. The R304Q variant is commonly described as pathogenic based on clinical assessment. However, it is also present in the general population (minor-allele-frequency (MAF) 0.0007&#15...

Introduction: Approximately 25% of medullary thyroid cancer (MTC) cases arise in a familial setting, either as MEN2 or fMTC. While most of these are caused by mutations in the RET gene, a few families have unidentified mutations. Recently, a frameshift mutation in the ESR2 gene (coding oestrogen receptor beta) was found in a family with RET-negative fMTC associated with C-cell hyperplasia. In vitro, transfection of mutant ESR2 led t...

The islet-enriched transcription factor MAFA regulates the expression of genes critical to beta cell function and insulin secretion. We previously described anovel MAFA mutation (c.191C > T, p.S64F) causing familial insulinomatosis and diabetes mellitus, with male carriers more often developing diabetes and females more prone to insulinomatosis. The exact molecular mechanisms underlying these phenotypes are unclear. In this study, we assessed glucose metabolism an...

Introduction: Papillary thyroid carcinoma (PTC) is a differentiated thyroid carcinoma and is the most common variant. It is more frequent in women and the median age at diagnosis is 45 years. Most PTC are clinically indolent, have a good prognosis and low incidence of distant metastases. The more frequent locals of distant metastases are bone and lung. Brain metastases are very rare and associated with a poor prognosis.Case report: We present a case of a...

A decrease in the number of functional insulin producing beta-cells contributes to the pathophysiology of type 2 diabetes. The putative factors responsible for the maladaptation of beta-cells include hyperglycaemia, cytokines, dyslipidemia and leptin. Islet inflammation, autoimmunity and some drugs may be secondary modulators. Predetermined amount of beta-cell mass, sensitivity to pro-apoptotic signals and regeneration potential of beta-cells are predisposing factors. The mech...