Rabson-Mendenhall syndrome (Mendenhall syndrome)
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Genetics
- autosomal recessive
- associated with defects in the insulin receptor (INSR)
Clinical manifestations
- severe insulin resistance syndrome
- insulin-resistant diabetes mellitus
- pineal hyperplasia
- somatic abnormalities
- typical features include
- coarse, senile-appearing facies
- dental & skin abnormalities
- abdominal distension
- phallic enlargement
Laboratory
- serum glucose (high)
- serum insulin (high)
More general terms
- diabetes mellitus type 2 (insulin-resistant)
- genetic syndrome (multisystem disorder)
- genetic disease of the endocrine system