ESPE Abstracts

Background: Rabson-Mendenhall Syndrome (RMS) is a rare, autosomal recessive disorder characterized by hormonal and clinical features of insulin resistance (acanthosis nigricans, hirsutism, etc.) Other clinical features may include lipodystrophy and metabolic syndrome (hypertension, non-alcoholic fatty liver disease (NAFLD), hypertriglyceridemia and polycystic ovary syndrome). Biallelic loss of function mutations in the insulin receptor gene (INSR) affect insul...