ESPE Abstracts

Donohue syndrome (also known as leprechaunism) is an extremely rare and severe autosomal recessive genetic disorder. Leprechaunism derives its name from the fact that people with the disease often have elfin features and are smaller than usual. Leprechaunism is also characterized by abnormalities of the endocrine system ; such abnormalities include hyperinsulinemia. Due to the mutation in Insulin receptor gene, infants with leprechaunism fail to use insulin effectively (insuli...