Familial pituitary adenomas account for approximately 5–8% of all pituitary adenomas. Besides the adenomas occurring as part of syndromic entities that group several endocrine or nonendocrine disorders (multiple endocrine neoplasia type 1 or 4, Carney complex and McCune–Albright syndrome), 2–3% of familial pituitary adenomas fit into the familial isolated pituitary adenomas (FIPA) syndrome, an autosomal dominant condition with incomplete penetrance. About 20% of FIPA cases are due to mutations in the AIP gene and have distinct clinical characteristics. Recent findings have isolated a new non-AIP FIPA syndrome called X-linked acrogigantism, resulting from a microduplication that always includes the GPR101 gene. These new advances in the field of pituitary disease are opening up a new challenging domain to both clinicians and researchers. This review will focus on these recent findings and their contribution to the diagnosis and the management of familial pituitary adenomas.
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