title: [Familial isolated pituitary adenoma syndrome].
abstract: Familial pituitary adenomas occur in multiple endocrine neoplasia type 1, Carney complex, as well as in familial isolated pituitary adenoma syndrome. Familial isolated pituitary adenoma syndrome is an autosomal dominant disease with incomplete penetrance. Pituitary adenomas occur in familial setting but without any other specific tumors. In 20-40% of families with this syndrome, mutations have been identified in the aryl hydrocarbon receptor interacting protein gene while in the rest of the families the causative gene or genes have not been identified. Families carrying aryl hydrocarbon receptor interacting protein gene mutations have a distinct phenotype with younger age at diagnosis and a predominance of somatotroph and lactotroph adenomas. Germline mutations of the aryl hydrocarbon receptor interacting protein gene can be occasionally identified in usually young-onset seemingly sporadic cases. Genetic and clinical testing of relatives of patients with aryl hydrocarbon receptor interacting protein gene mutations can lead to earlier diagnosis and treatment at an earlier stage of the pituitary tumor.
authors.affiliation: Honvédkórház-Állami Egészségügyi Központ II. Belgyógyászati Osztály, Endokrinológiai Szakprofil Budapest.
authors.forename: Judit
authors.initials: J
authors.lastname: Dénes
authors.forename: Márta
authors.initials: M
authors.lastname: Korbonits
authors.forename: Erika
authors.initials: E
authors.lastname: Hubina
authors.forename: Gábor László
authors.initials: GL
authors.lastname: Kovács
authors.forename: László
authors.initials: L
authors.lastname: Kovács
authors.forename: Zoltán
authors.initials: Z
authors.lastname: Görömbey
authors.forename: Sándor
authors.initials: S
authors.lastname: Czirják
authors.forename: Miklós
authors.initials: M
authors.lastname: Góth
mesh_terms: D000172:Acromegaly / Q000235:genetics*; D000236:Adenoma / Q000175:diagnosis* / Q000235:genetics*; D056733:Carney Complex / Q000235:genetics; D000242:Cyclic AMP / Q000378:metabolism; D044365:GTP-Binding Protein alpha Subunits, G12-G13 / Q000378:metabolism; D006360:Heat-Shock Proteins / Q000378:metabolism; D006801:Humans; D006814:Hungary; D051034:Inhibitor of Apoptosis Proteins / Q000378:metabolism; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics / Q000378:metabolism*; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D010727:Phosphoric Diester Hydrolases / Q000378:metabolism; D010911:Pituitary Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D000077022:Survivin; D013577:Syndrome
chemical_list: C107489:BIRC5 protein, human; D006360:Heat-Shock Proteins; D051034:Inhibitor of Apoptosis Proteins; D047908:Intracellular Signaling Peptides and Proteins; D000077022:Survivin; C103265:aryl hydrocarbon receptor-interacting protein; D000242:Cyclic AMP; D010727:Phosphoric Diester Hydrolases; D044365:GTP-Binding Protein alpha Subunits, G12-G13