Endocrine Abstracts

Pseudohypoparathyroidism (PHP) refers to a group of heterogeneous genetic diseases, characterized by resistance to PTH and frequently other hormones activating cAMP-dependent events down-stream of different G protein-coupled receptors. PHP-Ia and Ib, the most frequent forms, are caused by mutations within the GNAS locus that encodes Gαs and several splice variants thereof. We describe a 36-year-old man with sporadic PHP-Ib with renal PTH-resistance, yet severe hyperparath...

Differentiated Thyroid Cancer (DTC) is the most common malignant tumor in endocrinology, being the papillary subtype frequently found. The DTC is usually indolent and with a more favorable clinical prognosis of survival in 10 years, which has been diagnosed more frequently after the development and dissemination of complementary detection methods, according to the world literature. However, access to imaging exams with increasing resolving power makes a large number of low-ris...

Introduction: Occult neuroendocrine tumors are still a difficult diagnostic/therapeutic challenge.Case report: In November 2007, a 29-years-old Caucasian woman was admitted to our in-patients clinic with a 2-month history of rapidly progressing signs and symptoms of chronic hypercortisolism, including a bipolar disorder in psychosis. On admission the patient presented with hypokalemia (3.2 mEq/l), high levels of plasma (3164 nmol/l) and urinary free (26 ...

BRAFV600E mutation is the most frequent genetic alteration (29–83%) of papillary thyroid carcinoma (PTC). Many authors have demonstrated that the presence of the mutation is associated with a more advanced tumor stage at diagnosis and a worse outcome but anyone assessed if BRAFV600E mutation could be useful prognostic marker in low risk PTC patients (T1-T2N0M0, 7th TNM classification).Aim of this study was to evaluate if the presence of BRAFV600E mu...

BRAFV600E is the most common mutation in papillary thyroid carcinoma (PTC). Anatomo-patology and clinical features of PTC with BRAFV600E are well described in literature.Aim of this study was to examine the prognostic significance of BRAFV600E in patients with PTC and a follow-up of 15-20 years.Genomic DNA was purified from 67 paraffin-embedded tumoral tissue. A PCR-SSCP analysis of exon 15 of BRAF ...