RabsonMendenhallszindróma

Rabson-Mendenhall syndrome is a rare genetic disorder characterized by a distinctive set of symptoms. It is an autosomal recessive condition, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the syndrome. The primary features of Rabson-Mendenhall syndrome include insulin resistance, a shortened lifespan, and striking physical characteristics.

Individuals with Rabson-Mendenhall syndrome often present with accelerated aging, particularly evident in their facial features, which can appear prematurely aged. They also typically exhibit developmental delays and cognitive impairment. A hallmark of the condition is severe insulin resistance, which leads to diabetes mellitus that is often difficult to manage. Other common medical issues include recurrent infections, gastrointestinal problems, and skeletal abnormalities.

The genetic basis of Rabson-Mendenhall syndrome has been linked to mutations in the *INSR* gene, which encodes the insulin receptor. This receptor plays a crucial role in how the body responds to insulin, a hormone vital for regulating blood sugar. Faulty insulin receptors impair glucose uptake by cells, leading to the extreme insulin resistance seen in affected individuals.

Diagnosis is typically based on clinical presentation and confirmed through genetic testing. There is currently no cure for Rabson-Mendenhall syndrome, and treatment focuses on managing the various symptoms and complications. This includes aggressive management of diabetes, supportive care for developmental and physical challenges, and addressing recurrent infections. The prognosis is generally poor, with a significantly shortened lifespan being a characteristic feature of the syndrome.