Familiáris izolált hypophysisadenoma

Translated title of the contribution: Familial isolated pituitary adenoma syndrome

Judit Dénes, Márta Korbonits, Erika Hubina, Gábor László Kovács, László Kovács, Zoltán Görömbey, Sándor Czirják, Miklós Góth

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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.

Translated title of the contributionFamilial isolated pituitary adenoma syndrome
Original languageHungarian
Pages (from-to)722-730
Number of pages9
JournalOrvosi hetilap
Volume152
Issue number18
DOIs
Publication statusPublished - May 1 2011

ASJC Scopus subject areas

  • Medicine(all)

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    Dénes, J., Korbonits, M., Hubina, E., Kovács, G. L., Kovács, L., Görömbey, Z., Czirják, S., & Góth, M. (2011). Familiáris izolált hypophysisadenoma. Orvosi hetilap, 152(18), 722-730. https://doi.org/10.1556/OH.2011.29093