Family isolated pituitary adenoma. Clinical case

Abstract

Familial isolated pituitary adenoma (FIPA) is a term used to identify a genetic condition with pituitary tumors without other endocrine abnormalities or other associated abnormalities. FIPA is a heterogeneous disease both clinically and genetically. Their clinical picture includes signs and symptoms of different types of pituitary adenoma, either homogeneous (all affected family members have the same type of adenoma) or heterogeneous (different types of adenoma within the same family). A 57-year-old patient presented in January 2024 with the following complaints: headache, sleep disturbances, arthralgias, ossalgias, and myalgias. In 2014, she was diagnosed with a non-secreting pituitary macroadenoma, being reevaluated annually, and in dynamics without significant changes. Aggravated eredocollateral anamnesis - the 61-yearold sister, was diagnosed with Pituitary Macroadenoma (10.6 x 12.9 x 14.9 mm) secreting STH (Acromegaly) in 2021. Also taking into account the presence of the clinical picture specific to FIPA it is assumed that both the brother and the daughter are suspects for Familial Pituitary Adenoma, but due to the lack of clinical and imaging investigations, the diagnosis was not confirmed. Genetic evaluation of the aryl hydrocarbon receptor-interacting protein (AIP) gene will allow confirmation of the AIP gene mutation that is warranted in patients with isolated familial pituitary adenoma. Early screening and dynamic re-evaluation can prevent complications, since most of the time FIPA can be silent for clinical and hormonal.