Journal article

Aggressive pituitary adenomas occurring in young patients in a large Polynesian kindred with a germline R271W mutation in the AIP gene

Juliet E Jennings, Marianthi Georgitsi, Ian Holdaway, Adrian F Daly, Maria Tichomirowa, Albert Beckers, Lauri A Aaltonen, Auli Karhu, Fergus J Cameron

EUROPEAN JOURNAL OF ENDOCRINOLOGY | BIOSCIENTIFICA LTD | Published : 2009

Abstract

OBJECTIVE: Mutations in the aryl hydrocarbon receptor-interacting protein (AIP) were recently shown to confer a pituitary adenoma predisposition in patients with familial isolated pituitary adenomas (FIPA). We report a large Samoan FIPA kindred from Australia/New Zealand with an R271W mutation that was associated with aggressive pituitary tumors. DESIGN AND METHODS: Case series with germline screening of AIP and haplotype analyses among R271W families. RESULTS: This previously unreported kindred consisted of three affected individuals that either presented with or had first symptoms of a pituitary macroadenoma in late childhood or adolescence. The index case, a 15-year-old male with incipien..

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