Rabson-Mendenhall Syndrome, also known as Rabson-Mendenhall syndrome (RMS), is a rare genetic disorder characterized by severe insulin resistance. It is named after the two physicians who first described the condition, Dr. Robert Rabson and Dr. Robert Mendenhall.
Insulin resistance is a key feature of Rabson-Mendenhall Syndrome, meaning that the body's cells do not respond properly to insulin, a hormone that regulates blood sugar levels. This leads to high levels of glucose in the blood, which can cause a variety of health problems.
Individuals with Rabson-Mendenhall Syndrome often develop diabetes mellitus at an early age, typically before the age of one. However, the diabetes in RMS is different from the more common forms of diabetes. It is characterized by severe insulin resistance and is difficult to manage with standard diabetes treatments.
In addition to diabetes, individuals with Rabson-Mendenhall Syndrome may experience a range of other symptoms. These can include growth retardation, abnormalities in the teeth and nails, enlarged genitals in males, delayed puberty, and abnormalities in the skin and hair.
Rabson-Mendenhall Syndrome is caused by mutations in the insulin receptor gene, which is responsible for producing a protein that allows cells to respond to insulin. These mutations disrupt the normal functioning of the insulin receptor, leading to insulin resistance.
Due to its rarity and complex nature, Rabson-Mendenhall Syndrome can be challenging to diagnose and manage. Treatment typically involves a multidisciplinary approach, including endocrinologists, geneticists, and nutritionists. The goal of treatment is to manage blood sugar levels and address the various symptoms and complications associated with the condition.