Endocrine Abstracts

Introduction: The association of hyperthyroidism and thyroid cancer (TC) is controversial with prevalences in the literature varying from 1.6 to 32.8%. The aim of this work was to evaluate the prevalence of TC in hyperthyroid patients submitted to surgery and to find differences between the tumors according to the type of hyperthyroidism.Material and methods: retrospective study to evaluate clinical and histopathological data of all hyperthyroid patients...

Methimazole-induced cholestatic jaundice is a rare adverse effect, dose-dependent, occurring within the first 3 months of use, usually reversible within 3 months after discontinuing drug therapy.Case report: Woman, 64 years, history of hyperthiroidism since August 2009, under therapy with methimazole 5 mg/day. The patient was referred to endocrinology department in March 2010, with history of heart failure, atrial fibrillation, type 2 diabetes mellitus, ...

The hyperparathyroidism-jaw tumour (HPT-JT) syndrome is an autosomal dominant disease characterised by the occurrence of parathyroid tumours, which are often carcinomas, and fibro-osseous tumours of the jaw bones. The HPT-JT gene is on chromosome 1q25 and consists of 17 exons that encode a 531 amino-acid protein, designated PARAFIBROMIN (Nature Genetics, in press). Thirteen heterozygous germline mutations that result in truncated or inactivated forms of PARAFIBROMIN have been ...

The paired-like homeodomain transcriptional repressor HESX1 is implicated in forebrain and pituitary embryogenesis. A homozygous mutation (R160C) was identified in two siblings with septo-optic dysplasia (SOD), with consequent loss of DNA-binding. We have now identified a second homozygous mutation (I26T) within the highly conserved engrailed homology domain (eh-1) of HESX1 that is crucial for the repressor function of HESX1. We aimed to investigate the functional consequences...