The research group, lead by professor Lauri Aaltonen (University of Helsinki, Finland) and Dr Outi Vierimaa (Oulu University Hospital, Finland) providing the initial observations leading to the investigations, aimed at unravelling the genetic basis of susceptibility to pituitary adenomas. Pituitary adenomas are common benign neoplasms, accounting for approximately 15 % of intracranial tumors.
Most common hormone-secreting pituitary tumor types oversecrete prolactin or growth hormone (GH), which together with local compressive effects account for their substantial morbidity. Oversecretion of GH causes acromegaly or gigantism. Acromegaly is characterized by coarse facial features, protruding jaw, and enlarged extremities. The potentially severe symptoms of untreated acromegaly, develop slowly and the condition is difficult to diagnose early. Gigantism refers to excessive linear growth occurring due to GH oversecretion when epiphyseal growth plates are still open, in childhood and adolescence. Genetic predisposition to pituitary tumors has been believed to be rare.
The researchers detected three clusters of familial pituitary adenoma in Northern Finland. Genealogy data reaching back to 1700's was available. Two first clusters could be linked by genealogy. The researchers hypothesized that a previously uncharacterized
Contact: Lauri A. Aaltonen
University of Helsinki