Endocrine Abstracts

Introduction: Thomsen’s disease is a non-dystrophic congenital myotonia with autosomal dominant inheritance. Its association with short stature attributed to growth hormone deficiency (GHD) has never been reported in literature to our best knowledge.Case report: A 14-years-old Moroccan boy, with no particular medical history, presented for evaluation of a short stature. On physical examination, the patient had a height of 141 cm (−2.5 S...

Metformin (1.1-dimethylbiguanide hydrochloride), a widely used antidiabetic drug, has been reported to display potent anticancer properties in various types of cancers, including neuroendocrine tumors. Recently, a potential synergistic activity between metformin and octreotide (SSA) in Pancreatic Neuroendocrine Tumors (P-NETs) has been proposed. AIP (aryl hydrocarbon receptor-interacting protein) acts as tumor suppressor gene in neuroendocrine tumors at pituitary level and it ...

Introduction: Germline mutations in succinate dehydrogenase complex (SDHx) are a risk factor for developing Pheochromocytoma (Pheo) and/or Paragangliomas (PGL) (named together PPGL), being responsible for approximately 30% of cases. The precise genotype-phenotype correlations and best management strategies are still uncertain.Objective: To characterize the clinical features and genotype-phenotype associations in a group of SDHx-mutated PPGL patients....

The unresponsiveness of anaplastic thyroid carcinomas (ATCs) to multimodal therapy represents the major challenge in thyroid cancer treatment. Our group previously showed that genes involved in cell cycle are differentially expressed in ATCs compared to normal thyroid, and that the most common mutations found in these tumours are related with proliferation and cell cycle genes, namely TP53, RAS, CDKN2A and CDKN2B. Therefore, these genes are ...

Background: HIV-infection is associated to an increased prevalence of erectile dysfunction (ED). In HIV-infected men ED seems to be less related to serum Testosterone (T), depending from other factors.Aim: To investigate the role of different components (organic, relational, psychological) of erectile function by using validate questionnaires in HIV-infected men with normal serum T.Methodology: Prospective, cross-sectional, observa...

POEMS syndrome characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes is a rare disease that usually presents in the 6th decade. We report a case of a young male in whom the presenting manifestations were mandibular mass, adrenal insufficiency and peripheral polyneuropathy. Clinical case: A thirty-three year old man from Guinea-Bissau was admitted to our hospital with asthenia, weight loss, decreased tactile sensibility with pain ...

Introduction: Insulinomas are the most frequent cause of hypoglycemia and the most common functional endocrine pancreatic tumors. Whipple triad is often present and should alert to the diagnosis.Case report: A 36-year-old male was admitted in the emergency room with loss of consciousness, diaphoresis and blurred vision, and hypoglycemia (50 mg/dl). The patient recalled recurrent symptoms of diaphoresis, tremors and palpitations, sometimes with loss of co...

Introduction: Parathyroid Carcinomas are rare malignant neoplasms, accounting for less than 1% of primary hyperparathyroidism cases. Apart from certain genetic mutations, no additional risk factors are known. Diagnosis is challenging in the absence of metastatic disease since no consensual histological criteria have so far been developed. These neoplasms typically present with severe hypercalcemia and markedly elevated serum PTH levels. Treatment is surgical and despite freque...

Several studies have shown a link between pro-inflammatory activity and the presence or relative deficit of some fatty acids. A low amount of omega 3 fatty acids, appears to promote an inflammatory profile. The omega 6 fatty acids have also the same effect. It is well known that a chronic low-grade inflammation is associated to several diseases, namely, diabetes. The follow-up of children and young people with Type 1 diabetes involves the periodic evaluation of their lipidic p...

Non-alcoholic steatohepatitis (NASH) is a clinical entity characterized by the infiltration of fat into the liver associated with hepatic inflammation. The etiology is unknown, however its most frequently observed in patients with type 2 diabetes mellitus (DM 2), obesity or insulin resistance. DM 2 is an independent risk factor for the progression of NASH. Usually there are no symptoms, so it is not possible to estimate its prevalence. The treatment focuses on the control of a...