Rabson-Mendenhall syndrome is an autosomal recessive disorder caused by a loss-of-function mutation of the insulin receptor. An insulin resistent diabetes mellitus ensues further characterized by hyperinsulinemia and various somatic abnormalities. There are striking similarities between Rabson-Mendenhall and Donohue syndromes. The latter being published shortly before.
The disorder was first described by Rabson and Mendenhall in 1956. The found a family of 3 affected children who later died of ketoacidosis.[Error: Macro 'ref' doesn't exist]
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