{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T12:14:37Z","timestamp":1753877677566,"version":"3.41.2"},"reference-count":11,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2024,9,22]],"date-time":"2024-09-22T00:00:00Z","timestamp":1726963200000},"content-version":"vor","delay-in-days":21,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>MEN1 is a rare syndrome caused by mutations in the MEN1 gene. We describe a clinical case of MEN1 syndrome associated with a recently discovered pathogenic mutation of MEN1 gene. A 32-year-old man with a history of osteopenia, nephrolithiasis, hypercalcemia and hypophosphatemia, impaired fasting glucose, and asthenia was admitted to our outpatient unit. Primary hyperparathyroidism, sustained by three hyperplastic parathyroid glands, was diagnosed. Prolactin- and GH-secreting adenomas were ruled out. After undergoing subtotal parathyroidectomy, the patient was diagnosed with non-functioning pituitary adenoma, three pancreatic lesions, and Cushing syndrome sustained by left adrenal adenoma. The patient underwent left adrenal surgery; somatostatin analogue lanreotide was started for the pancreatic lesions; the pituitary adenoma, being small and non-secreting, was not treated. A genetic test was performed to confirm the diagnosis of MEN1 syndrome, finding an association with a recently discovered mutation: the (NM_130799.2):c.758delC (p.Ser253Cysfs*28) in exon 4.<\/jats:p>","DOI":"10.1093\/omcr\/omae111","type":"journal-article","created":{"date-parts":[[2024,9,22]],"date-time":"2024-09-22T10:57:18Z","timestamp":1727002638000},"source":"Crossref","is-referenced-by-count":0,"title":["Phenotypic presentation of <i>MEN1<\/i> c.758delC (p.Ser253Cys<i>fs<\/i>*28) pathogenic variant: a case report"],"prefix":"10.1093","volume":"2024","author":[{"given":"Antonio","family":"Mancini","sequence":"first","affiliation":[{"name":"Fondazione Policlinico Universitario \u201cAgostino Gemelli\u201d, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS) Operative Unit of Internal Medicine, Endocrinology and Diabetology, Department of Translational medicine and surgery, , Largo Agostino Gemelli, 8, 00168, Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Concolino","sequence":"additional","affiliation":[{"name":"Fondazione Policlinico Universitario \u2018Agostino Gemelli\u2019, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS) Clinical Chemistry, Biochemistry and Molecular Biology Operations (UOC), , Largo Agostino Gemelli, 8, 00168, Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8444-0091","authenticated-orcid":false,"given":"Edoardo","family":"Vergani","sequence":"additional","affiliation":[{"name":"Fondazione Policlinico Universitario \u201cAgostino Gemelli\u201d, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS) Operative Unit of Internal Medicine, Endocrinology and Diabetology, Department of Translational medicine and surgery, , Largo Agostino Gemelli, 8, 00168, Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Oliva","sequence":"additional","affiliation":[{"name":"Fondazione Policlinico Universitario \u201cAgostino Gemelli\u201d, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS) Operative Unit of Internal Medicine, Endocrinology and Diabetology, Department of Translational medicine and surgery, , Largo Agostino Gemelli, 8, 00168, Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Macis","sequence":"additional","affiliation":[{"name":"Oncological Radiation Therapy and Hematology Fondazione Policlinico Universitario \u2018Agostino Gemelli\u2019, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS) Department of Diagnostic Imaging, , Largo Agostino Gemelli, 8, 00168, Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emanuela","family":"Traini","sequence":"additional","affiliation":[{"name":"Ospedale San Carlo di Nancy GVM Endocrine Surgery Unity, , Via Aurelia, 275, 00165, Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esther Diana","family":"Rossi","sequence":"additional","affiliation":[{"name":"Catholic University of Sacred Heart Division of Anatomic Pathology and Histology, , Largo Agostino Gemelli, 8, 00168, Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2024,9,22]]},"reference":[{"key":"2024092210571170500_ref1","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1111\/cen.14727","article-title":"Update on the clinical management of multiple endocrine neoplasia type 1","volume":"97","author":"Pieterman","year":"2022","journal-title":"Clin 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