Charles Byrne, the "Irish Giant," is now known to have had a pituitary adenoma containing an inherited mutation in the AIP gene that led to his excessive growth. Byrne's exact height is uncertain, but it was probably close to 8 feet; this indicates that the tumor must have appeared during childhood, before closure of the epiphyseal joints.
Although Byrne died 2 centuries before the discovery of DNA, teeth from his skeleton preserved by John Hunter provided the crucial material to establish a genetic diagnosis. Additional studies in the area of Northern Ireland where Byrne was from reveal that this mutation has persisted in several families. The mutation has also been found in Finland, where it is be associated with 40% of pituitary adenomas that are diagnosed in patients before the age of 35 years.
Treatment was not available for Charles Byrne in the 18th century. Today, his rapid early growth would have led to timely MRI, followed by pituitary surgery via a transsphenoidal endoscopic approach. If the tumor recurred, other therapeutic options would be available, such as chemotherapy or radiotherapy. Byrne would have a good chance of living a normal life rather than being exhibited as one of nature's curiosities.
Medscape General Surgery © 2011
Cite this: Albert B. Lowenfels. The Case of the Big Man With a Little Lesion - Medscape - Jun 27, 2011.