{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T08:08:54Z","timestamp":1753862934022,"version":"3.41.2"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,3,8]],"date-time":"2023-03-08T00:00:00Z","timestamp":1678233600000},"content-version":"vor","delay-in-days":7,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disorder without a good genotype\u2013phenotype correlation, characterized by tumor predisposition in the parathyroid gland, anterior pituitary, and pancreatic islet cells. Here, we describe a 37\u2010year\u2010old male with previous history of nephrolithiasis, with a 1\u2010year history of recurrent hypoglycemic episodes. Physical examination revealed the presence of two lipomas. Family history revealed primary hyperparathyroidism (PHPT), hyperprolactinemia, and multiple non\u2010functioning pancreatic neuroendocrine tumors. Initial laboratories revealed hypoglycemia and primary hyperparathyroidism. A fasting test was positive after 3\u2009hours of initiation. An abdominal CT Scan demonstrated a 28\u2009\u00d7\u200927\u2009mm mass in the pancreatic tail and bilateral nephrolithiasis. A distal pancreatectomy was done. After surgery, the patient persisted with hypoglycemic episodes that were managed with diazoxide and frequent feedings. A parathyroid Tc\u201099\u2009m MIBI scan with SPECT\/CT imaging demonstrated two hot uptake lesions compatible with abnormally functioning parathyroid tissue. Surgical treatment was offered; however, the patient decided to postpone the procedure. Direct sequence analysis of <jats:italic>MEN1<\/jats:italic> gene revealed heterozygosity for a pathogenic insertion c.1224_1225insGTCC (p.Cys409Valfs*41). DNA sequence analysis was done to six of his first\u2010degree relatives. A sister with clinical diagnosis of MEN1 and a pre\u2010symptomatic brother were positive for the same <jats:italic>MEN1<\/jats:italic> variant. To our knowledge, this is the first report of a genetically confirmed case of MEN1 in our country and is the first report in literature of the c.1224_1225insGTCC variant related to a clinically affected family.<\/jats:p>","DOI":"10.1002\/ccr3.7041","type":"journal-article","created":{"date-parts":[[2023,3,8]],"date-time":"2023-03-08T14:26:52Z","timestamp":1678285612000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Multiple endocrine neoplasia type 1 familial case in a patient with insulinoma and primary hyperparathyroidism: First report in literature and in the Costa Rican population of the c.1224_1225insGTCC pathogenic variant"],"prefix":"10.1002","volume":"11","author":[{"given":"Paula","family":"Molina\u2010C\u00e9spedes","sequence":"first","affiliation":[{"name":"Escuela de Medicina Universidad de Costa Rica  San Jos\u00e9 Costa Rica"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ernesto Jos\u00e9","family":"Ruiz\u2010Golcher","sequence":"additional","affiliation":[{"name":"Escuela de Medicina Universidad de Costa Rica  San Jos\u00e9 Costa Rica"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oscar","family":"Badilla\u2010Barboza","sequence":"additional","affiliation":[{"name":"M\u00e9dico Endocrin\u00f3logo Hospital San Juan de Dios  San Jos\u00e9 Costa Rica"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Sed\u00f3\u2010Mej\u00eda","sequence":"additional","affiliation":[{"name":"Unidad de Alergolog\u00eda Hospital San Juan de Dios  San Jos\u00e9 Costa Rica"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Barboza\u2010Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Servicio de Anatom\u00eda Patol\u00f3gica Hospital San Juan de Dios  San Jos\u00e9 Costa Rica"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9209-1779","authenticated-orcid":false,"given":"Rams\u00e9s","family":"Badilla\u2010Porras","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica y Metabolismo Hospital Nacional de Ni\u00f1os  San Jos\u00e9 Costa Rica"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,3,8]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.12688\/f1000research.7230.1"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181be5c97"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPA.0000000000000825"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20605"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-1230"},{"key":"e_1_2_10_7_1","first-page":"97","volume-title":"Cancer Syndromes","author":"Marini 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