Donohue syndrome

Donohue syndrome, also known as leprechaunism, is an extremely rare and severe genetic disorder. The older name derives from the mythical leprechaun, whose physical attributes resemble the hallmark elvish features of the condition: small stature, bulging eyes and upturned nostrils. The disease is caused by a mutation in the INSR gene, which carries the information for forming insulin receptors, so affected individuals have either fewer insulin receptors or receptors with greatly impaired function. The resulting severe insulin resistance prevents regulation of blood glucose and ultimately disturbs the development of tissues and organs throughout the body. Endocrine abnormalities can produce hyperglycemia, hypoglycemia, high blood insulin and enlargement of the sex organs.