Encyclopedia of Genetic Disorders | Donohue syndrome

Definition

Donohue syndrome, also formerly called leprechaunism, is a genetic disorder caused by mutations in the insulin receptor gene. W. L. Donohue first described this rare syndrome in 1948.

Description

Donohue syndrome is a disorder that causes low birth weight, unusual facial features, and failure to thrive in infants. Donohue syndrome is associated with the over-development of the pancreas, a gland located near the stomach. It is also considered to be the most insulin resistant form of diabetes.

Donohue syndrome results from a mutation of the insulin receptor gene which prevents insulin in the blood from being processed. Therefore, even before birth, the fetus exhibits "insulin resistance" and has high...