Rabson Mendenhall Syndrome caused by a novel missense mutation.

ABSTRACT:

Background

Rabson Mendenhall syndrome is a rare endocrine condition characterized by severe insulin resistance and hyperglycemia. It occurs due to mutations in the insulin receptor gene. Few mutations which are associated with Rabson Mendenhall syndrome have been identified and reported in the past. The management of this condition is extremely challenging and will need multi-disciplinary approach.

Case presentation

An 11 year old boy presented with polyuria and polydipsia. He was noted to have coarse facies, severe acanthosis nigricans, hypertrichosis, retarded growth and developmental delay. Investigations revealed severe hyperglycemia which was poorly responsive to high doses of insulin. A diagnosis of Rabson Mendenhall syndrome was suspected based on his physical charact

SUBMITTER: Sinnarajah K 

PROVIDER: S-EPMC5114824 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature