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

• Autor(a) principal: Pinho,Leandro Kasuki Jomori de
• Data de Publicação: 2010
• Outros Autores: Vieira Neto,Leonardo, Wildemberg,Luiz Eduardo Armondi, Moraes,Aline Barbosa, Takiya,Christina M., Frohman,Lawrence A., Korbonits,Márta, Gadelha,Mônica R.
• Tipo de documento: Relatório
• Idioma: eng
• Título da fonte: Arquivos Brasileiros de Endocrinologia & Metabologia (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302010000800006

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.