Donohue syndrome

Donohue syndrome, also known as leprechaunism, is a rare, congenital condition marked by extreme insulin resistance. This condition is characterized by severe growth retardation that begins in the womb and continues after birth. The term leprechaunism underscores some of the unique physical features seen in people affected by this condition. The syndrome falls within a group of disorders that feature severe insulin resistance, which also includes conditions such as Rabson-Mendenhall syndrome and type A insulin-resistance syndrome. Donohue syndrome is connected with mutations in the INSR gene, which plays a key role in how the body responds to insulin, contributing to the distinctive growth challenges seen in affected individuals.

People with Donohue syndrome commonly experience significant growth retardation during both the prenatal period (intrauterine) and after birth (postnatal). This marked delay in growth is one of the primary signs of the condition.

Donohue syndrome is caused by genetic mutations that affect the insulin receptor, specifically involving the INSR gene. These mutations lead to extreme insulin resistance, which disrupts normal growth and development from the early stages of life.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.