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

Title: Primary hyperparathyroidism as first manifestation in MEN 2A: an international multicenter study
Authors: Larsen, Louise Vølund; Mirebeau-Prunier, Delphine; Imai, Tsuneo; Alvarez-Escola, Cristina; Hasse-Lazar, Kornelia; Censi, Simona; Castroneves, Luciana A; Sakurai, Akihiro; Kihara, Minoru; Horiuchi, Kiyomi; Barbu, Véronique Dorine; Borson-Chazot, Françoise; Gimenez-Roqueplo, Anne-Paule; Pigny, Pascal; Pinson, Stephane; Wohllk, Nelson; Eng, Charis; Aydoğan, Berna İmge; Saranath, Dhananjaya; Dvorakova, Sarka; Castinetti, Frederic; Attila, Patocs; Bergant, Damijan; Links, Thera P; Peczkowska, Mariola; Hoff, Ana O; Mian, Caterina; Dwight, Trisha; Jarzab, Barbara; Neumann, Hartmut P H; Robledo, Mercedes; Uchino, Shinya; Barlier, Anne; Godballe, Christian; Mathiesen, Jes Sloth
Contributors: Larsen, Louise Vølund; Mirebeau-Prunier, Delphine; Imai, Tsuneo; Alvarez-Escola, Cristina; Hasse-Lazar, Kornelia; Censi, Simona; Castroneves, Luciana A; Sakurai, Akihiro; Kihara, Minoru; Horiuchi, Kiyomi; Barbu, Véronique Dorine; Borson-Chazot, Françoise; Gimenez-Roqueplo, Anne-Paule; Pigny, Pascal; Pinson, Stephane; Wohllk, Nelson; Eng, Chari; Aydoğan, Berna İmge; Saranath, Dhananjaya; Dvorakova, Sarka; Castinetti, Frederic; Attila, Patoc; Bergant, Damijan; Links, Thera P; Peczkowska, Mariola; Hoff, Ana O; Mian, Caterina; Dwight, Trisha; Jarzab, Barbara; Neumann, Hartmut P H; Robledo, Mercede; Uchino, Shinya; Barlier, Anne; Godballe, Christian; Mathiesen, Jes Sloth
Publication Year: 2020
Collection: Padua Research Archive (IRIS - Università degli Studi di Padova)
Subject Terms: primary hyperparathyroidism; multiple endocrine neoplasia type 2A; RET; medullary thyroid carcinoma; pheochromocytoma
Description: 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.
Document Type: article in journal/newspaper
Language: English
Relation: info:eu-repo/semantics/altIdentifier/pmid/32375120; info:eu-repo/semantics/altIdentifier/wos/WOS:000540819700003; journal:ENDOCRINE CONNECTIONS; https://hdl.handle.net/11577/3341807
DOI: 10.1530/EC-20-0163
Availability: https://hdl.handle.net/11577/3341807; https://doi.org/10.1530/EC-20-0163
Rights: info:eu-repo/semantics/openAccess ; license:Creative commons ; license uri:http://creativecommons.org/licenses/by/4.0/ ; license uri:http://creativecommons.org/licenses/by-nc-nd/4.0/
Accession Number: edsbas.58CCCEAF
Database: BASE