Rabson-Mendenhall Syndrome is a rare genetic disorder characterized by severe insulin resistance, which means the body's cells do not respond properly to insulin. Insulin is a hormone that helps regulate blood sugar levels. This condition is caused by mutations in the insulin receptor gene, affecting the body's ability to use insulin effectively.
Individuals with Rabson-Mendenhall Syndrome often experience symptoms such as excessive hunger, frequent urination, and extreme thirst. They may also have acanthosis nigricans, a skin condition characterized by dark, thickened patches of skin. Additionally, affected individuals may have growth delays, abnormalities in teeth development, and distinctive facial features.
Due to the severe insulin resistance, individuals with Rabson-Mendenhall Syndrome typically require high doses of insulin to manage their blood sugar levels. However, even with treatment, it can be challenging to control blood sugar effectively. This condition can lead to various complications, including diabetes, cardiovascular problems, and other metabolic disorders.
As Rabson-Mendenhall Syndrome is a genetic disorder, it is typically present from birth. Management of the condition involves a multidisciplinary approach, including regular monitoring of blood sugar levels, dietary modifications, and close medical supervision.