Endocrine Abstracts

Introduction: Neonatal diabetes mellitus is a rare form of diabetes, diagnosed within the first six months of life. We report a case of a 24-year-old patient with permanent neonatal diabetes.Case Report: The patient had no relevant family history. Her mother had no gestational diabetes. Personal history included: Normal birth weight, polycystic ovarian syndrome and ovarian teratomas. She was diagnosed of diabetes at 3 months of age, starting immediately ...

Introduction: MODY 5 is a rare type of dominantly inherited diabetes mellitus. It is asociated with mutations of the hepatocyte nuclear factor-1beta (HNF-1beta) gene. They are mostly missense mutations that produce truncated proteins with a variable clinical spectrum that encompasses among others: kidney, genital and pancreatic abnormalities.Case-report: A 35 years-old man without relevant medical history, presented with acute hypergycemia (541 mg/dl) an...

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: Patients with primary adrenal insufficiency (PAI) require lifelong corticoids replacement and they are at risk of therapy-related osteoporosis and cardiovascular complications.Objectives: Determine the prevalence of cardiovascular risk factors, osteoporosis, and other toxicities related with corticoids treatment.Material and methods: Retrospective, descriptive study in patients with PAI follow up in our service during...