Multiple endocrine neoplasia type 2A (MEN 2A) is a rare syndrome caused by RET germline mutations, and have been associated with primary hyperparathyroidism (PHPT) in up to 30% of cases. Recommendations on RET screening in patients with apparently sporadic PHPT are unclear. We aimed to estimate the prevalence of cases presenting with PHPT as first manifestation among MEN 2A index cases and to characterize the former cases.

Primary hyperparathyroidism as first manifestation in MEN 2A: an international multicenter study

Censi, Simona;Mian, Caterina;
2020

Abstract

Multiple endocrine neoplasia type 2A (MEN 2A) is a rare syndrome caused by RET germline mutations, and have been associated with primary hyperparathyroidism (PHPT) in up to 30% of cases. Recommendations on RET screening in patients with apparently sporadic PHPT are unclear. We aimed to estimate the prevalence of cases presenting with PHPT as first manifestation among MEN 2A index cases and to characterize the former cases.
2020
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11577/3341807
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