Endocrine Abstracts

Introduction: An 18 day old term male baby presented with faltering growth and hyponatraemia. Extensive investigations suggested the cause of hyponatraemia was water excess which may result from either overproduction of Antidiuretic hormone (SIADH) or the nephrogenic syndrome of inappropriate antidiuresis (NSIAD). Genetic testing demonstrated a hemizygous mutation in the AVPR2 gene.Case report: The infant presented with 8% weight loss and hyponatraemia (...

Introduction: Iodine deficiency in Western countries is considered a historic disease. In 1924 up to 30% of school aged children in the UK had a goitre. The UK however remains one of the most iodine deplete countries in the world. Those following restricted diets are also at particular risk of iodine deficiency.Case Report: A nine year old female on a significantly restricted diet due to multiple food allergies presented with a goitre. Ultrasound scan co...