Rabson-Mendenhall Syndrome
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📋Overview
Rabson-Mendenhall syndrome is a rare genetic disorder characterized by severe insulin resistance due to mutations affecting the insulin receptor. It is considered part of a spectrum of insulin receptor-related insulin resistance syndromes, including Donohue syndrome (leprechaunism). The condition leads to abnormal glucose metabolism and distinctive physical features. It is caused by inherited mutations in the INSR gene, which encodes the insulin receptor. Rabson-Mendenhall syndrome is a legacy eponym; the modern understanding classifies it under severe insulin resistance syndromes caused by insulin receptor defects.
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