Endocrine Abstracts

Introduction: The syndrome of familial isolated pituitary adenomas (FIPA) or predisposition to pituitary adenomas (PAP) is characterized by the presence within the same family of at least 2 isolated pituitary adenomas without any other type of associated endocrine tumor. We report the case of a prolactinoma attached to the pituitary stalk as part of FIPA, revealed by erectile dysfunction.

Case report: A 40 year old man presented with eretile dysfunction since the age of 19. The investigations revealed a hyperpr et al. olactinemia at 289 ng/ml, a normal IGF1 for the age, hepatic, renal function, calcium levels, and the rest of the pituitary showed no abnormality. Pituitary MRI revealed the presence of a 27 × 21 × 14 mm mass suspended from the pituitary stalk. In the presence of a family history of 2 paternel cousins treated for isolated prolactinomas the diagnosis of familial isolated pituitary adenoma was established.

Discussion: More than 200 families with FIPA have been described in the medical literature. These pituitary tumors may present as homogenous with the same tumor phenotype or heterogeneous with different patterns of pituitary tumor phenotypes (GH, Prolactine, ACTH secretion or non functioning pituitary adenomas) within the same kindred. Patients with FIPA are significantly younger at diagnosis and have significantly larger pituitary adenomas than matched sporadic pituitary adenoma counterparts. About 20% of FIPA have mutations in the aryl hydrocarbon receptor interacting protein gene (AIP) usually associated with a worse outcome. Genetic study was not feasible at our level.

Conclusion: Familial isolated pituitary adenomas (FIPA) must be searched from anamnesis in front of any pituitary tumor and search by PCR (mutations of the AIP gene) given its prognostic interest. Our case is interesting not only by localization of the pituitary adenoma but also by the familial background.