[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: Judit Dénes, Márta Korbonits, Erika Hubina, Gábor László Kovács, László Kovács, Zoltán Görömbey, Sándor Czirják, Miklós Góth
• Journal: Orvosi hetilap (Orv Hetil) Vol. 152 Issue 18 Pg. 722-30 (May 01 2011) ISSN: 0030-6002 [Print] Hungary
• Vernacular Title: Familiáris izolált hypophysisadenoma.
• PMID: 21498161 (Publication Type: Journal Article)

Chemical References

• BIRC5 protein, human
• Heat-Shock Proteins
• Inhibitor of Apoptosis Proteins
• Intracellular Signaling Peptides and Proteins
• Survivin
• aryl hydrocarbon receptor-interacting protein
• Cyclic AMP
• Phosphoric Diester Hydrolases
• GTP-Binding Protein alpha Subunits, G12-G13

Topics

• Acromegaly (genetics)
• Adenoma (diagnosis, genetics)
• Carney Complex (genetics)
• Cyclic AMP (metabolism)
• GTP-Binding Protein alpha Subunits, G12-G13 (metabolism)
• Heat-Shock Proteins (metabolism)
• Humans
• Hungary
• Inhibitor of Apoptosis Proteins (metabolism)
• Intracellular Signaling Peptides and Proteins (genetics, metabolism)
• Multiple Endocrine Neoplasia Type 1 (genetics)
• Mutation
• Pedigree
• Phosphoric Diester Hydrolases (metabolism)
• Pituitary Neoplasms (diagnosis, genetics)
• Survivin
• Syndrome