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00925njm 22002777a 4500 dc Larsen, Louise Vølund author Mirebeau-Prunier, Delphine author Imai, Tsuneo author Alvarez-Escola, Cristina author Hasse-Lazar, Kornelia author Censi, Simona author Castroneves, Luciana A author Sakurai, Akihiro author Kihara, Minoru author Horiuchi, Kiyomi author Barbu, Véronique Dorine author Borson-Chazot, Francoise author Gimenez-Roqueplo, Anne-Paule author Pigny, Pascal author Pinson, Stephane author Wohllk, Nelson author Eng, Charis author Aydogan, Berna Imge author Saranath, Dhananjaya author Dvorakova, Sarka author Castinetti, Frederic author Patocs, Attila author Bergant, Damijan author Links, Thera P author Peczkowska, Mariola author Hoff, Ana O author Mian, Caterina author Dwight, Trisha author Jarzab, Barbara author Neumann, Hartmut P H author Robledo, Mercedes author Uchino, Shinya author Barlier, Anne author Godballe, Christian author Mathiesen, Jes Sloth author Robledo Batanero, Mercedes author 2020-06 Multiple endocrine neoplasia type 2A (MEN 2A) is a rare syndrome caused by RET germline mutations and has 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. An international retrospective multicenter study of 1085 MEN 2A index cases. Experts from MEN 2 centers all over the world were invited to participate. A total of 19 centers in 17 different countries provided registry data of index cases followed from 1974 to 2017. Ten cases presented with PHPT as their first manifestation of MEN 2A, yielding a prevalence of 0.9% (95% CI: 0.4-1.6). 9/10 cases were diagnosed with medullary thyroid carcinoma (MTC) in relation to parathyroid surgery and 1/10 was diagnosed 15 years after parathyroid surgery. 7/9 cases with full TNM data were node-positive at MTC diagnosis. Our data suggest that the prevalence of MEN 2A index cases that present with PHPT as their first manifestation is very low. The majority of index cases presenting with PHPT as first manifestation have synchronous MTC and are often node-positive. Thus, our observations suggest that not performing RET mutation analysis in patients with apparently sporadic PHPT would result in an extremely low false-negative rate, if no other MEN 2A component, specifically MTC, are found during work-up or resection of PHPT. Endocr Connect. 2020;9(6):489-497. 10.1530/EC-20-0163 Endocrine connections 32375120 http://hdl.handle.net/20.500.12105/11345 MEDULLARY-THYROID CARCINOMA RET PROTOONCOGENE SURGICAL-MANAGEMENT PROGNOSTIC-FACTORS DISEASE PHENOTYPE CODON 634 MEN 2A MUTATIONS PHEOCHROMOCYTOMA PREVALENCE Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study.