title: Familial isolated pituitary adenomas experience at a single center: clinical importance of AIP mutation screening.
abstract: We present four FIPA kindred discussing clinical and molecular data and emphasizing the differences regarding AIP status, as well as the importance of genetic screening. Family 1 consists of five patients harboring somatotropinomas with germline E24X mutation in AIP. In one of the patients, acromegaly was diagnosed through active screening, being cured by surgery. Families 2 and 3 are composed of two patients with non-functioning pituitary adenomas. Family 4 comprises patients harboring a prolactinoma and a somatotropinoma. No mutations in AIP were found in these families. No patient in Family 1 was controlled with octreotide treatment, while the acromegalic patient in Family 4 was controlled with octreotide LAR. In conclusion, FIPA is a heterogeneous condition, which may be associated with AIP mutation. Genomic and clinical screening is recommended in families with two or more members harboring pituitary adenomas, allowing early diagnosis and better outcome.
authors.affiliation: Endocrinology Service, Hospital Universitário Clementino Fraga Filho, Rio de Janeiro, RJ, Brazil.
authors.forename: Leandro Kasuki Jomori de
authors.initials: LK
authors.lastname: Pinho
authors.forename: Leonardo
authors.initials: L
authors.lastname: Vieira Neto
authors.forename: Luiz Eduardo Armondi
authors.initials: LE
authors.lastname: Wildemberg
authors.forename: Aline Barbosa
authors.initials: AB
authors.lastname: Moraes
authors.forename: Christina M
authors.initials: CM
authors.lastname: Takiya
authors.forename: Lawrence A
authors.initials: LA
authors.lastname: Frohman
authors.forename: Márta
authors.initials: M
authors.lastname: Korbonits
authors.forename: Mônica R
authors.initials: MR
authors.lastname: Gadelha
mesh_terms: D000172:Acromegaly / Q000175:diagnosis; D000236:Adenoma / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D005190:Family; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010911:Pituitary Neoplasms / Q000175:diagnosis / Q000235:genetics*; D015175:Prolactinoma / Q000175:diagnosis / Q000235:genetics; D055815:Young Adult
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C103265:aryl hydrocarbon receptor-interacting protein