{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T12:29:57Z","timestamp":1778243397441,"version":"3.51.4"},"reference-count":30,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,5,12]],"date-time":"2025-05-12T00:00:00Z","timestamp":1747008000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Multiple endocrine neoplasia type 1 (MEN1) is a rare disease caused by mutations in the oncosuppressor gene <jats:italic>MEN1<\/jats:italic> and characterized by co-occurrence of tumors of the parathyroid gland, pancreas, and pituitary gland. The clinical manifestations of MEN1 are varied, and misdiagnosis is common. The life expectancy of patients with untreated MEN1 is short. Here, we report a case of a 50-year-old patient with recurrent urinary calculi for more than 10 years who had a pancreatic neuroendocrine tumor and parathyroid adenoma. The patient received a definitive diagnosis of MEN1. We analyze his clinical characteristics and describe our approach to management.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case Presentation<\/jats:title><jats:p>Laboratory tests showed high parathyroid hormone (PTH), high blood calcium, and low blood phosphorus levels and increased excretion of urinary calcium. Immunohistochemical analysis showed loss of menin expression in pancreatic tumor tissues. Testing of the <jats:italic>MEN1<\/jats:italic> gene revealed a variant in exon 9 (c.1257_1268del, p.lle420_Trp423del).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The patient\u2019s clinical characteristics combined with the testing of the <jats:italic>MEN1<\/jats:italic> gene, it implied the variant was a novel likely pathogenetic variant. For patients with recurrent urinary stones, we recommend measuring blood calcium and PTH, and if there are abnormalities, screening other endocrine glands to exclude the possibility of MEN1.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fendo.2025.1551087","type":"journal-article","created":{"date-parts":[[2025,5,12]],"date-time":"2025-05-12T04:13:21Z","timestamp":1747023201000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Case Report: A novel likely pathogenetic variant of the MEN1 gene in multiple endocrine neoplasia type 1"],"prefix":"10.3389","volume":"16","author":[{"given":"Mengli","family":"Sun","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinxia","family":"Chang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xianen","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liangmiao","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mengmeng","family":"Peng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiqiang","family":"Zhong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,5,12]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1016\/j.ando.2023.09.003","article-title":"French guidelines from the GTE, AFCE and ENDOCAN-RENATEN (Groupe d\u2019\u00e9tude des Tumeurs Endocrines\/Association Francophone de Chirurgie Endocrinienne\/Reseau national de prise en charge des tumeurs endocrines) for the screening, diagnosis and management of Multiple Endocrine Neoplasia Type 1","volume":"85","author":"Goudet","year":"2024","journal-title":"Ann Endocrinol (Paris)"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.86.12.8070","article-title":"Guidelines for diagnosis and therapy of MEN type 1 and type 2","volume":"86","author":"Brandi","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1038\/332085a0","article-title":"Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma","volume":"332","author":"Larsson","year":"1988","journal-title":"Nature"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1007\/s00268-009-0290-1","article-title":"Risk factors and causes of death in MEN1 disease. 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