hrp0084p2-247 | Diabetes | ESPE2015

A Case of Donohue Syndrome: New Genetic Mutation and Added Phenotypic Characteristics

Alyafei Fawzia , Zyoid Mahmoud , Soliman Ashraf , Abdulkayoum Anas , Jarir Rawia , Kurdi Bader , Mahmoud Laila

Background: Leprechaunism (Donohue syndrome) is an extremely rare AR disease that presents with special phenotypic features including severe type of insulin resistance with high mortality in infancy.Case study: R 3 ½ months old Syrian girl, born at 35 weeks of gestation with Asymmetrical IUGR. She developed hyperglycemia from day1 of life >150 mg/dl (350+/−60 mg/dl) and her serum insulin and c-peptide were very high (772 uU/ml and 29.9 ng/...