hrp0098rfc10.4 | Multisystem Endocrine Disorders | ESPE2024

Manifestation of PTEN and MUTYH gene mutations: A Case Report

Blinstein Marc , Fradkin Mark , Rutkauskiene Giedre , Navardauskaite Ruta

Introduction: PTEN hamartoma tumor syndrome (PTHS), a rare genetic disorder, increases the risk of endocrine-related benign and malignant tumors like thyroid, endometrial, breast, and kidney tumors, as well as syndromes like Cowden syndrome (CS), which can cause genodermatosis. The MUTYH gene increases colon cancer risk. Pathogenic MUTYH and PTEN gene variants are autosomal dominantly inherited and 50% likely to pass on.<p class=...