AIP Mutation in Pituitary Adenomas in the 18th Century and Today

Gigantism results from the presence of a growth hormone–secreting pituitary adenoma before epiphyseal fusion. The authors identified a mutation in a gene extracted from the teeth of an 18th-century giant and from contemporary Northern Irish families with gigantism, acromegaly, or prolactinomas. Pituitary adenomas are usually benign, slow-growing tumors that cause symptoms due to excess hormone release, local space-occupying effects, or both. Adenomas that secrete excess growth hormone cause acromegaly. Patients with acromegaly have numerous symptoms and signs, such as hyperhidrosis, prognathism, frontal skull bossing, thickened skin, diabetes mellitus, hypertension, sleep apnea, osteoarthritis, and headache, as well as enlargement of the hands, feet, heart, and other internal organs. Large adenomas expand the pituitary fossa and can lead to visual-field defects and interfere with the production of other pituitary hormones, such as gonadotropic hormones, thyroid-stimulating hormone, or adrenocorticotropin. 4 Increased prolactin levels are often . . .