Familiáris izolált hypophysisadenoma

Translated title of the contribution: Familial isolated pituitary adenoma syndrome

Judit Dénes, Márta Korbonits, Erika Hubina, G. Kovács, László Kovács, Zoltán Görömbey, S. Czirják, M. Góth

Research output: Contribution to journalArticle

1 Citation (Scopus)

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.

Original languageHungarian
Pages (from-to)722-730
Number of pages9
JournalOrvosi Hetilap
Volume152
Issue number18
DOIs
Publication statusPublished - May 1 2011

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Pituitary Neoplasms
Genes
Mutation
Carney Complex
Growth Hormone-Secreting Pituitary Adenoma
Multiple Endocrine Neoplasia Type 1
Prolactinoma
Penetrance
Germ-Line Mutation
Genetic Testing
Familial Isolated Pituitary Adenoma
Early Diagnosis
Phenotype
aryl hydrocarbon receptor-interacting protein
Neoplasms
Therapeutics

ASJC Scopus subject areas

  • Medicine(all)

Cite this

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

Familiáris izolált hypophysisadenoma. / Dénes, Judit; Korbonits, Márta; Hubina, Erika; Kovács, G.; Kovács, László; Görömbey, Zoltán; Czirják, S.; Góth, M.

In: Orvosi Hetilap, Vol. 152, No. 18, 01.05.2011, p. 722-730.

Research output: Contribution to journalArticle

Dénes, J, Korbonits, M, Hubina, E, Kovács, G, Kovács, L, Görömbey, Z, Czirják, S & Góth, M 2011, 'Familiáris izolált hypophysisadenoma', Orvosi Hetilap, vol. 152, no. 18, pp. 722-730. https://doi.org/10.1556/OH.2011.29093
Dénes J, Korbonits M, Hubina E, Kovács G, Kovács L, Görömbey Z et al. Familiáris izolált hypophysisadenoma. Orvosi Hetilap. 2011 May 1;152(18):722-730. https://doi.org/10.1556/OH.2011.29093
Dénes, Judit ; Korbonits, Márta ; Hubina, Erika ; Kovács, G. ; Kovács, László ; Görömbey, Zoltán ; Czirják, S. ; Góth, M. / Familiáris izolált hypophysisadenoma. In: Orvosi Hetilap. 2011 ; Vol. 152, No. 18. pp. 722-730.
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