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Familial isolated pituitary adenomas experience at a single center: clinical importance of AIP mutation screening

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Title: Familial isolated pituitary adenomas experience at a single center: clinical importance of AIP mutation screening
Author(s): Jomori de Pinho, Leandro Kasuki; Vieira Neto, Leonardo; Armondi Wildemberg, Luiz Eduardo; Moraes, Aline Barbosa; Takiya, Christina M.; Frohman, Lawrence A.; Korbonits, Marta; Gadelha, Monica R.
Subject(s): mutation screening
Abstract: We present four FIPA kindred discussing clinical and molecular data and emphasizing the differences regarding AIP status, as well as the importance of genetic screening. Family 1 consists of five patients harboring somatotropinomas with germline E24X mutation in AIP. In one of the patients, acromegaly was diagnosed through active screening, being cured by surgery. Families 2 and 3 are composed of two patients with non-functioning pituitary adenomas. Family 4 comprises patients harboring a prolactinoma and a somatotropinoma. No mutations in AIP were found in these families. No patient in Family 1 was controlled with octreotide treatment, while the acromegalic patient in Family 4 was controlled with octreotide LAR. In conclusion, FIPA is a heterogeneous condition, which may be associated with AIP mutation. Genomic and clinical screening is recommended in families with two or more members harboring pituitary adenomas, allowing early diagnosis and better outcome.
Issue Date: 2010-11
Publisher: Sociedade Brasileira de Endocrinologia e Metabologia
Citation Info: de Pinho, L. K. J., Neto, L. V., Wildemberg, L. E. A., Moraes, A. B., Takiya, C. M., Frohman, L. A., Korbonits, M., & Gadelha, M. R. 2010. Familial isolated pituitary adenomas experience at a single center: clinical importance of AIP mutation screening. Arquivos Brasileiros De Endocrinologia e Metabologia, 54(8): 698-704. DOI: 10.1590/S0004-27302010000800006
Type: Article
Description: The original source for this publication is at Sociedade Brasileira de Endocrinologia e Metabologia; DOI: 10.1590/S0004-27302010000800006
URI: http://hdl.handle.net/10027/7617
ISSN: 0004-2730
Date Available in INDIGO: 2011-05-12
 

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