Endocrine Abstracts

Pheochromocytoma and paraganglioma (PPGL) are rare tumours, whose genetic profile has gained complexity over the last two decades. The list of genes involved in the development of this disease has been steadily growing, and there are currently more than 20 driver genes capable of explaining either the hereditary or sporadic nature of the disease. Although genetic diagnosis is achieved in about 75-80% of cases, the genetic aetiology remains to be explained not only in patients ...

Phaeochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours with marked genetic heterogeneity, being the most inherited human tumour described so far. Around 40% of patients will be a carrier of a germline mutation in any of the know PPGL genes, and thus, for years most of studies have been performed on germline DNA. Findings from genetic testing in tumour DNA has dramatically changed the scenario. Nowadays, it is as relevant to make the screening on the germ...

During the last two decades the Scientific Community has assisted to an exponential increase of knowledge of genetic factors related to cancer susceptibility, as well as of key molecular mechanisms involved in tumour progression. In part, this has been the result of using high-throughput platforms able to interrogate any part of the genome following a hypothesis-free strategy. Without a doubt, the success achieved in recent years has to do not only with the improvement in the ...

Pheochromocytomas (PCC) and paragangliomas (PGL) are rare neuroendocrine tumours, located in the adrenal medulla (PCC) and in the intra-abdominal, thoracic or head and neck paraganglia (PGL). They have the highest heritability of all human neoplasms being a good example of diseases with underlying genetic heterogeneity. In this regard, at least 40% of PCC/PGL (PPGL) patients carry a germline mutation in one of the 22 genes described so far as related to the disease. In additio...

Pheochromocytomas (PCC) and paragangliomas (PGL) are rare neuroendocrine tumours, located in the adrenal medulla (PCC) and in the intra-abdominal, thoracic or head and neck paraganglia (PGL). They have the highest heritability of all human neoplasms being a good example of diseases with underlying genetic heterogeneity. In this regard, at least 40% of PCC/PGL patients carry a germline mutation in one of the 16 genes described so far as related to the disease. In addition to th...

Introduction: Patients with diabetes have nearly twice the risk of depression compared to general population. Prolonged hypoglycemia can occur with insulin overdose and treatment involves correction of hypoglycemia with oral or intravenous glucose supplementation, with glucagon or octreotide in some cases. Glucocorticoids are not routinely administered but can be used as an adjunct in severe cases. We present a case of intentional insulin overdose in a young diabetic patient w...

Introduction: Adequate iodine intake is important in pregnant women.Objective: To determinate iodine status and thyroid volumen (TV) in healthy pregnant women from Navarra (Spain), and to evaluate possible influence of diet.Methods: A cross-sectional study of 144 women in the first trimester of pregnancy (single pregnancies) was carried during 2014. We measured thyroid-stimulating hormone (TSH), free thyroxine (fT4) and antithyroid...

Objective: To evaluate the role of thyroid blod flow assessment by color-flow Doppler ultrasonography in the differential diagnosis of thyrotoxicosis in an outpatient endocrinology clinic.Material and methods: Consecutive patients with thyrotoxicosis presenting to our center between January–December 2013 were included in the study. Clinical date were collected and measurements of TSH, serum free thyroxine and TSH receptor antibodies were performed. ...

Risk factors involved in new-onset diabetes mellitus after transplantation (NODAT) remain unclear. Clinical studies have demonstrated the association between low vitamin D levels with insulin resistance and diabetes. In animal models, osteocalcin deficiency leads to high glucose levels and insulin resistance.The aim of this study is to evaluate the prevalence of NODAT and other alterations of glucose metabolism after liver transplantation (LT) at our ins...

Objectives: The fetus is dependent on maternal thyroid hormones during pregnancy and an adequate thyroid function during pregnancy is essential for the normal brain development. The effects of subclinical hypothyroidism during pregnancy are poorly known. The present study assesses the association between thyroid hormones and thyrotropin in healthy pregnant women from the general population, and the neurodevelopment of their children at the age of 14 months.<p class="abstex...