Children with MEN1 gene mutations may present first (and at a young age) with Cushing disease.
Angeliki MakriMaria Belen BonellaMargaret F KeilLaura Hernandez-RamirezGabriella PaluchAmit TiroshCarolina SaldarriagaPrashant ChittiboinaStephen J MarxConstantine A StratakisMaya B LodishPublished in: Clinical endocrinology (2018)
This report describes a paediatric patient population with MEN1 in whom CD was the initial manifestation, confirming a previous observation that paediatric patients with MEN1 may present first with an ACTH-producing adenoma. Therefore, germline MEN1 mutations should be sought in paediatric CD and tested for when there is a suggestive family history and/or other manifestations.