Reach further, in an Open Access Journal Endocrinology, Diabetes & Metabolism Case Reports

ISSN 1470-3947 (print)
ISSN 1479-6848 (online)

Searchable abstracts of presentations at key conferences in endocrinology

Published by BioScientifica
Endocrine Abstracts (2010) 22 OC3.6 

Young patients with sporadic macroadenomas as target population for AIP mutations screening

Maria Tichomirowa1, Anne Barlier2, Adrian Daly1, Marie-Lise Jaffrain-Rea3, Renato Cozzi4, Maria Yaneva5, Luciana Naves6, Christina Ronchi7, Caroline Sievers8, Dominique Maiter9, Carmen Fajardo Montañana10, Sabine Zacharieva5 & Albert Beckers1

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Methods: We undertook an assessment of patients which were diagnosed with or had their first symptoms of pituitary tumor before the age of 30 and had tumor diameter more than 1 cm without familial history of pituitary adenomas. In patients that consented to genetic analysis, germline mutations in the AIP gene were sought.

Results: The study population consisted of 164 patients (61 prolactinomas, 84 somatotropinomas, 16 non-secreting tumors, two patients with Cushing disease and one TSH-oma). In general we have diagnosed 28 AIP variations (17%) and 17 variations we supposed being pathogenic (10.4%) in 164 young patients with pituitary macroadenomas. In 84 acromegalic patients we have identified ten distinct pathogenic mutations in 11 patients (13%). In 61 subjects with macroprolactinomas we have identified 8 variations in AIP gene and five mutations or (8.2%) we presumed as pathogenic. We found one novel mutation out of 14 nonsecreting tumors which comprise 7.1%.

Conclusion: Screening of young patients with large pituitary adenomas for germline AIP mutations were positive in 10.4% of cases.

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