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 (...