ABSTRACT
Pituitary adenomas are generally benign tumors with diverse functional characteristics, and they can have a significant impact on patients and medical specialists. The majority of pituitary adenomas occur sporadically, and inherited germline mutations that are responsible for familial presentation are quite infrequent. The elucidation of the responsible genetic causes of familial isolated pituitary adenomas (FIPA) started with the identification of loss of heterozygosity in locus in kindreds with familial acromegaly who lacked mutations in the multiple endocrine neoplasia type 1 gene. Aryl interacting protein (AIP)-related pituitary adenomas are shown to exhibit some specific clinical characteristics that differentiate them from patients with wild-type AIP alleles. Genetic predisposition to pituitary adenomas is increasingly being recognized, and the array of the known familial pituitary pathology has been enriched with the definition of FIPA. The identification of AIP gene mutations as the underlying molecular defects in a proportion of FIPA patients has provided the opportunity for genetic screening in affected families.
