ea0065p140 | Endocrine Neoplasia and Endocrine Consequences of Living with and Beyond Cancer | SFEBES2019
Stevenson Mark
, Olinger Eric
, Debaix Huguette
, Vogt Bruno
, Devuyst Olivier
, Thakker Rajesh
Mutations in cyclin dependent kinase inhibitor 1B (CDKN1B) are associated with multiple endocrine neoplasia type 4 (MEN4), in which patients typically develop parathyroid and anterior pituitary tumours, and occasionally tumours of the pancreas, adrenals, kidneys and reproductive organs. Here, we report a family with a missense mutation of CDKN1B (p.Pro69Leu) that did not have MEN4-associated tumours, but instead had hypomagnesaemia. The proband, presented wit...