Rabson–Mendenhall syndrome

autorecessive

Rabson–Mendenhall syndrome is a rare genetic disorder characterized by severe insulin resistance. It is part of a group of conditions known as insulin receptor disorders, which also includes Donohue syndrome and type A insulin resistance syndrome. The syndrome is named after Dr. S. M. Rabson and Dr. L. S. Mendenhall, who first described the condition.

Clinical Features

Individuals with Rabson–Mendenhall syndrome typically present with a range of symptoms that may include:

• Severe insulin resistance
• Hyperglycemia
• Acanthosis nigricans
• Dysplastic teeth
• Hirsutism
• Pineal hyperplasia
• Growth retardation

Genetics

Rabson–Mendenhall syndrome is caused by mutations in the INSR gene, which encodes the insulin receptor. This gene is located on chromosome 19. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Diagnosis

Diagnosis of Rabson–Mendenhall syndrome is based on clinical features and confirmed by genetic testing. Laboratory tests typically show elevated levels of insulin and glucose in the blood, indicating severe insulin resistance.

Treatment

There is no cure for Rabson–Mendenhall syndrome, and treatment is primarily supportive. Management strategies may include:

• High doses of insulin
• Dietary modifications
• Metformin and other insulin-sensitizing agents
• Monitoring and treatment of complications such as diabetes mellitus and hyperglycemia

Prognosis

The prognosis for individuals with Rabson–Mendenhall syndrome varies. The condition is often severe and can lead to significant health complications. Early diagnosis and management are crucial for improving outcomes.

See Also

• Insulin receptor disorders
• Donohue syndrome
• Type A insulin resistance syndrome
• Hyperglycemia
• Acanthosis nigricans

External Links

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