ea0099p316 | Pituitary and Neuroendocrinology | ECE2024
Chiloiro Sabrina
, Domenico Capoluongo Ettore
, Costanza Flavia
, Minucci Angelo
, Giampietro Antonella
, Infante Amato
, Milardi Domenico
, Ricciardi Tenore Claudio
, De Bonis Maria
, Gaudino Simona
, Rindi Guido
, Olivi Alessandro
, De Marinis Laura
, Pontecorvi Alfredo
, Doglietto Francesco
, Bianchi Antonio
Genetic discoveries improved the understanding of the etiology and pathogenesis of several diseases, including acromegaly. Germline mutations involving AIP, MEN1, CDKN1B, GPR101, PRKAR1A, and GNAS genes have been described in GH-secreting PitNETs, but realistically many genetic alterations have not been identified yet. Nowadays, RET mutations have not been reported in acromegaly, if not exclusively in the context of a multiple endocrine neoplasia (MEN). A 48-year-old patient w...