Endocrine Abstracts

Introduction: HNF-1β maturity-onset diabetes of the young (MODY5) is uncommon, nevertheless accurate diagnosis guides individualized management and informs prognosis in probands and relatives.Objective: To emphasize the importance of the appropriate use of clinical, biochemical and genetic investigations for the correct classification of diabetes etiology.Case-report: A 35-year-old overweight Latin-American male was diagnosed ...

Introduction: Maternally inherited diabetes and deafness (MIDD), is a rare entity. Most commonly, it is related to a point mutation in the mitochondrial DNA (mtDNA) at position 3243 (m.3243A>G) encoding the gene for tRNA. A high index of suspicion is required for the diagnosis due to a wide heterogeneity in its clinical presentation which reflects different levels of mutated mtDNA among mitochondria in a given tissue (heteroplasmy). Thyroid cancer risk has never been speci...

Introduction: DRESS (drug reaction with eosinophilia and systemic symptoms) syndrome is a severe multiorgan drug reaction, often associated with the development of autoimmune diseases. Pathogenically it has been related to the reactivation or the primary infection of different herpes virus.Clinical case: A 33-year-old woman with a history of residual epilepsy, after resection of a cerebellar pleomorphic xantoastrocytoma, started treatment with Levetirace...