Endocrine Abstracts

Autoimmune thyroid diseases (AITD) are organ specific autoimmune disorders with a T-cell-mediated immune attack directed against the thyroid. Hashimoto’s thyroiditis and Graves’ disease are the two principal AITD clinical presentations, which are characterized by hypothyroidism and thyrotoxicosis, respectively. We review the available data in literature about personalized medicine in patients with autoimmune thyroiditis (AT) and hypothyroidism. The synthetic Levothyr...

Somatic activating mutations in BRAF, encoding B-Raf, have been described in tumours and recently craniopharyngiomas. Germline mutations in BRAF and other components of the RAS/MAPK pathway are found in RASopathies, whose features include endocrine deficiencies but not craniopharyngiomas. We report three BRAF mutations (two of which are novel) in four children with congenital hypopituitarism. To demonstrate the functional role of the three variants w...

Somatic activating mutations in BRAF, encoding B-Raf, have been described in tumours and recently craniopharyngiomas. Germline mutations in BRAF and other components of the RAS/MAPK pathway are found in RASopathies, whose features include endocrine deficiencies but not craniopharyngiomas. We report three BRAF mutations (two of which are novel) in four children with congenital hypopituitarism. To demonstrate the functional role of the three variants w...

Introduction: Salivary cortisol measurement is a non-invasive and easy test to carry out. It is painless and does not cause stress.Aim: The aim of the present study was to evaluate the correlation between salivary cortisol (SaC) and serum cortisol (SeC) after 1 mg Dexamethasone (DXM) overnight and their diagnostic utility as screening test of Cushing’s syndrome (CS).Methods: We performed a prospective study in 92 patients with...

Introduction: Recently we have demonstrated the contribution of the quantification of expression of adenohypophyseal hormone genes in the identification of the different Pituitary Neuroendocrine Tumor (PitNET) subtypes according to the 2004 WHO criteria.Aim: The aim of the present study was to evaluate the contribution of the quantification of expression of pituitary transcription factor genes to the identification of PitNETs according to 2017 WHO criter...

Introduction: Pituitary Neuroendocrine Tumor (PitNET) subtypes present functioning and silent variants but the silencing mechanisms are still unknown. One of the possible hypotheses could be a decrease in the expression of the specific adenohypophyseal hormone genes. The aim of the present study was to analyze the expression of adenohypophyseal hormone genes in a series of PitNETs, in order to evaluate differences between functioning and silent PitNET subtypes, taking into acc...

Introduction: Although recognized as a risk factor in most staging systems, including the UICC TNM classification, the significance of microscopic extrathyroid extension (ETE) in papillary thyroid carcinoma (PTC) remains controversial. Despite this fact, its diagnosis by a pathologist following surgery for tumours ≤ 4 cm without metastases means an upstaging to pT3 and stage III in patients over 45 years, implying a poorer survival. Our study aimed to evaluate the impact...

Context: Cushing’s syndrome (CS) is a rare endocrine disease, due to cortisol hypersecretion. CS patients have several comorbidities, often still present after biochemical cure. There are no specific nursing healthcare programs to address this disease and achieve improved health related quality of life (HRQoL). Thus, an educational nursing intervention in these patients, through the development and promotion of specific educational tools, appears to be justified.<p cl...

In obesity the combined effects of enhanced food consumption, enhanced oxidative stress and inflammation could increase levels of advanced glycation end products (AGEs) and the action of their receptors.Objective: To study circulating levels of AGEs, soluble RAGE and AGER-1 and their association with insulin resistance and inflammation in young subjects with obesity and normal weight.Material and methods: We conducted a cross-secti...

Introduction: Vasoactive intestinal peptide-producing tumours (VIPomas) represent a rare type of neuroendocrine tumour whose incidence is 1 in 10 million per year. Most are located in the pancreas. They cause diffuse watery (secretory) diarrhoea, hypokalaemia and achlorhydria and also appear as an uncommon cause of hypercalcaemia.Case report A 69-year-old female with previous diagnosis of a ‘non-functioning’ neuroendocrine pancreatic tumour (20...