Searchable abstracts of presentations at key conferences in endocrinology

ea0081ep620 | Endocrine-Related Cancer | ECE2022

A NEM 2A with mutation in a gene outside panel ROTERC

Abdellahi Mohamed Ahmed Mohamed , Mejdoub Nabila , Souhir Guidara , Salah Dhoha Ben , Mnif Mouna , Akid Faten Haj Kacem , Abid Mohamed

Introduction: Multiple endocrine neoplasia type 2 is an inherited syndrome characterized by the characteristic combination of medullary thyroid cancer, pheochromocytoma and primary hyperparathyroidism. We report one case with phenotype-genotype mismatch.Observation: Patient A. T is 45 years of age with a family history of thyroid bone marrow cancer (CMT) and sister brain cancer, father colon cancer, with no personal history of disease. A 60 mm long-axis ...