Familial Pituitary Adenomas: An Overview

Abstract

The recently recognized higher prevalence of pituitary tumours presents a challenge for endocrinologists and health-care resource providers in terms of diagnostics and therapy. The majority of pituitary tumors arise sporadically as anterior pituitary adenomas but approximately 5% can be attributed to a familial syndrome. The clinical and genetic characteristics of familial pituitary adenomas have been well portrayed in multiple endocrine neoplasia type 1 (MEN 1) and Carney complex (CNC). Recently, familial cases of pituitary tumours that were unrelated to MEN 1 or CNC were described under the clinical de fi nition of familial isolated pituitary adenomas (FIPA). In 15-20% of FIPA patients, mutations in the AIP gene can be found. As clinical treatment in FIPA kindreds with AIP mutations and in MEN1 cases with pituitary adenomas can be challenging compared with sporadic cases, the issues of when and how best to screen subjects genetically, hormonally and radiologically have become increasingly prominent.