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ea0099p445 | Calcium and Bone | ECE2024

Clinical characterization of a cohort of patients with multiple endocrine neoplasia syndrome type 1 (MEN1): role of the MEN1 gene mutation on the phenotypic expression of the syndrome

Pierotti Laura , Pardi Elena , Sardella Chiara , Valentina Simone/////Della , Lago Anna Dal , Piaggi Paolo , Bogazzi Fausto , Caligo Maria Adelaide , Cetani Filomena

The clinical diagnosis of MEN1 is established when a proband manifests at least two of the manifestations of the triad (Primary Hyperparathyroidism (PHPT), Pituitary adenoma, Gastroenteropancreatic Neuroendocrine Tumor (GEP-NET)). Typically, it is a familial disease (F-MEN1), while in about 10% of cases the disease is sporadic. In sporadic forms (S-MEN1), up to 70% of patients may exhibit a negative genetic analysis (MEN1-negative). These patients seem to have distinc...

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Endocrine Abstracts

Clinical characterization of a cohort of patients with multiple endocrine neoplasia syndrome type 1 (MEN1): role of the MEN1 gene mutation on the phenotypic expression of the syndrome

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