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 insulin action and appear to be the fundamental mechanism underlying this syndrome.

Methods: Patients attending at Gaafar Ibn Auf pediatric tertiary hospital or Sudan childhood diabetes center with clinical features of insulin resistance syndrome during year 2006 to 2022 were included in this study. The phenotypes and diagnostic information including genetic results were collected from medical records.

Results: Seven patients from six unrelated families showed classical features of insulin resistance. The age of presentation varied with some presenting early in the neonatal period and others at a later adolescent age. Clinical severity of the condition showed variable penetrance, with some presenting in diabetic keto- acidosis, others with hyper insulinemic hypoglycemia, euglycemia or diabetes. Lipodystrophy was evident in five patients, hypertension in one and multiple ovarian cysts in four females. Genetic mutations in INSR gene was identified in five patient patients, one patient no mutation was found and in one patient it was not done.

Management: included high insulin doses and metformin for glycemic control.

Conclusion: We describe the clinical patterns of patients with RMS and highlight the challenges in diagnosis and management from a resource limited setting.