Endocrine Abstracts

Multiple endocrine neoplasia (MEN) 1 is a rare hereditary autosomal dominant tumor syndrome characterized by two or more endocrine tumors. Non-endocrine neoplasms have been described as well. MEN1 is caused by inactivating mutations of the onco-suppressor gene MEN-1 (chromosome 11q13) which encodes the protein menin. Currently, 897 public variants of MEN-1 gene are reported. We present the case of a recently discovered pathogenic mutations of MEN-1 gene. A 32-year-old Italian ...

Introduction: Somatotroph adenomas are GH producing pituitary adenomas. There are two main types based on granulation pattern: sparsely and densely granulated. Each type also has their own fibrous body pattern. Sparsely granulated (SG) have a ‘dot-like’ fibrous body pattern and the densely granulated (DG) have a ‘perinuclear’ fibrous body pattern. The fibrous bodies are mainly composed of keratin 8. Previous microarray analysis revealed six differentially e...

Introduction: Diabetes mellitus (DM) is a very common complication of cirrhosis (prevalence: 20–60%), primary due to increased hepatic insulin-resistance (IR). After liver transplantation (LT), DM recovers in 67% of cases, while 33% of patients remain diabetic because of a concomitant decreased beta cell function. The roles played by pre-transplant factors determining changes in glucose tolerance after LT are imperfectly known.Aim of the study: To h...

Background: Familial isolated pituitary adenoma (FIPA) is recently identified autosomal dominant condition with incomplete penetrance. Heterozygote mutations have been identified in the aryl-hydrocarbon receptor interacting protein (AIP) gene in 20–30% of FIPA families. AIP mutation positive patients have distinct phenotype: the disease is occurring at a younger age and have more aggressive tumours.Aims: The aim of this study was to perform comparat...

Background: Familial isolated pituitary adenoma (FIPA) is an autosomal dominant condition with incomplete penetrance. Heterozygote mutations have been identified in the aryl-hydrocarbon receptor interacting protein (AIP) gene in 20% of FIPA families causing young-onset aggressive tumours.Aims: The aim of this study was to perform comparative gene expression microarray analysis of familial AIP positive and AIP negative adenomas and compare them to sporadi...

Introduction: Hemolytic-uremic syndrome (HUS) is a clinical condition characterized by nonimmune hemolytic anemia, thrombocytopenia and progressive kidney failure mediated by E.Coli Shiga-like toxin. In rare cases the inflammatory process may lead to beta-cell necrosis and, hence, overt diabetes mellitus. Post-HUS DM is characterized by severe insulin depletion and very high insulin sensitivity, making its therapeutic management particularly challenging....

Androgen deprivation therapy is the choice treatment of metastatic prostatic tumors. Unfortunately, very often, resistance occurs and chemotherapy is needed. Results are however disappointing with frequent side effects. Therefore, new therapeutic approaches for metastatic and advanced prostate cancer are necessary. DKK1, an inhibitor of the Wnt signaling pathway, is increased in different types of cancer. In prostate cancer patients with bone metastases, an increase of DKK1 is...

Patients: Nineteen acromegalic patients (8 females, 21-69 years-old, with macroadenoma, microadenoma or no evidence of pituitary tumor in 15, 2, 2, respectively) resistant to first generation somatostatin analogs (FG-SA) at high doses and/or intolerant to pegvisomant were switched to pasireotide LAR (PasLAR). Eleven had persistent disease after neurosurgery and two had also undergone radiosurgery (12 and 24 months before starting PasLAR). Six complained of acromegalic headache...

Introduction: Premature ovarian failure (POF) may be a part of autoimmune polyglandular syndromes that involves multiple endocrine and systemic conditions due to autoimmunity.Material and methods: We aim to present the case of a young women diagnosed with POF and Schmidt syndrome. The patient was followed in different tertiary centers of endocrinology. The informed consent was obtained.Case report: A 31-year old patient with no pri...

Background: Chronic low-grade inflammation is a major factor in the pathogenesis of type 2 diabetes. One way for promoting inflammatory cytokines secretion is through activation of toll-like receptors (TLR). Their overexpression on monocytes has been demonstrated in insulin resistance and type 2 diabetes. Soluble forms of toll-like receptors (sTLR) are considered a regulatory mechanisms of their activation. Their role has been described in modulation of bacteria-induced infect...