Rabson –Mendenhall Syndrome in a brother-sister pair in Kuwait: Diagnosis and 5 year follow up

Rabson –Mendenhall Syndrome (RMS) is a rare autosomal, recessive disorder characterized by severe insulin resistance due to mutations in the insulin receptor (INSR) gene. Patients with RMS survive early childhood but have a significantly reduced life expectancy and may die during adolescence or early adu lthood. However, one case study from Spain reports on long-term survival in a patient with RMS [1]. The factors contributing to the progression of RMS have not been elucidated but it has been suggested that a progressive fall in the extremely high compensatory insulin concentrations is likely to be a major factor [2].
Source: Primary Care Diabetes - Category: Primary Care Authors: Tags: Original research Source Type: research