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A single case report describes a 15-year-old girl with primary amenorrhea and a growth hormone/prolactin-secreting pituitary tumour who harboured both a pathogenic AIP mutation and a de novo MEN1 duplication of uncertain significance in chromosome region 11q13.1, not previously reported and unlikely to be pathogenic (PMID:36597712). No additional unrelated probands, segregation evidence, or functional studies support a role for MEN1 in isolated pituitary gigantism. Given the lack of replication, segregation, or experimental validation, the MEN1–pituitary gigantism association is classified as Limited.
Key Take-home: Routine MEN1 genetic testing is not recommended for isolated pituitary gigantism in the absence of other MEN1-related manifestations or family history.
Gene–Disease AssociationLimitedSingle case report with a MEN1 variant of uncertain significance and no segregation or functional validation ([PMID:36597712]) Genetic EvidenceLimitedOne proband; MEN1 duplication VUS; no supportive segregation or recurrence Functional EvidenceLimitedNo functional assays or model data linking MEN1 to pituitary gigantism |