{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T13:52:39Z","timestamp":1753883559197,"version":"3.41.2"},"reference-count":12,"publisher":"The Endocrine Society","issue":"6","license":[{"start":{"date-parts":[[2025,4,18]],"date-time":"2025-04-18T00:00:00Z","timestamp":1744934400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,4,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Maffucci syndrome (MS) is a congenital disorder caused by a gain-of-function variant in isocitrate dehydrogenase-1 (IDH1) or isocitrate dehydrogenase-2 (IDH2) genes on chromosomes 2 and 15, respectively. Common manifestations include the development of multiple enchondromas, chondrosarcomas, and intracranial tumors such as pituitary adenomas. Endocrinological conditions are less frequently associated with MS. We present a patient with MS with complete anterior pituitary insufficiency with central hypothyroidism, adrenal insufficiency, and hypogonadotropic hypogonadism, which may be related to the mass effect of her intracranial enchondromas. With hormonal treatments including thyroid hormone replacement, hydrocortisone, and cabergoline, the patient\u2019s symptoms of fatigue and cold intolerance improved. We highlight the importance of endocrinological evaluation in patients with neurological tumors related to MS.<\/jats:p>","DOI":"10.1210\/jcemcr\/luaf072","type":"journal-article","created":{"date-parts":[[2025,4,18]],"date-time":"2025-04-18T08:24:21Z","timestamp":1744964661000},"source":"Crossref","is-referenced-by-count":0,"title":["Pituitary Complications of Enchondromas Due to Maffucci Syndrome"],"prefix":"10.1210","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6869-8626","authenticated-orcid":false,"given":"Nicole","family":"Morozov","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, The Jewish Hospital (Bon Secours Mercy Health) , Cincinnati, OH 45236 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rafael","family":"Fell","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, The Jewish Hospital (Bon Secours Mercy Health) , Cincinnati, OH 45236 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Mahmood","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, The Jewish Hospital (Bon Secours Mercy Health) , Cincinnati, OH 45236 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2025,4,18]]},"reference":[{"issue":"12","key":"2025042313221489200_luaf072-B1","doi-asserted-by":"crossref","first-page":"1256","DOI":"10.1038\/ng.1004","article-title":"Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome","volume":"43","author":"Pansuriya","year":"2011","journal-title":"Nat Genet"},{"issue":"5","key":"2025042313221489200_luaf072-B2","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1002\/ajmg.a.61530","article-title":"Natural history of Ollier disease and Maffucci syndrome: patient survey and review of clinical literature","volume":"182","author":"El Abiad","year":"2020","journal-title":"Am J Med Genet A"},{"issue":"3","key":"2025042313221489200_luaf072-B3","doi-asserted-by":"crossref","first-page":"101505","DOI":"10.1016\/j.berh.2020.101505","article-title":"Multiple hereditary exostoses and enchondromatosis","volume":"34","author":"Jurik","year":"2020","journal-title":"Best Pract Res Clin Rheumatol"},{"article-title":"IDH1\/2 Mutations in Glioma: ESMO Biomarker Factsheet","year":"2016","author":"Idbaih","key":"2025042313221489200_luaf072-B4"},{"issue":"12","key":"2025042313221489200_luaf072-B5","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1038\/ng.994","article-title":"Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2","volume":"43","author":"Amary","year":"2011","journal-title":"Nat Genet"},{"issue":"3","key":"2025042313221489200_luaf072-B6","doi-asserted-by":"crossref","first-page":"435","DOI":"10.3892\/etm.2023.12134","article-title":"A rare presentation of Maffucci syndrome: a case report and literature review","volume":"26","author":"Wang","year":"2023","journal-title":"Exp Ther Med"},{"issue":"6","key":"2025042313221489200_luaf072-B7","doi-asserted-by":"crossref","first-page":"1829","DOI":"10.3171\/2018.6.JNS18729","article-title":"Maffucci syndrome complicated by three different central nervous system tumors sharing an IDH1 R132C mutation: case report","volume":"131","author":"Nejo","year":"2019","journal-title":"J Neurosurg"},{"issue":"6","key":"2025042313221489200_luaf072-B8","doi-asserted-by":"crossref","first-page":"1562","DOI":"10.3171\/2015.4.JNS15191","article-title":"Somatic IDH1 mutation in a pituitary adenoma of a patient with Maffucci syndrome","volume":"124","author":"Hao","year":"2016","journal-title":"J Neurosurg"},{"issue":"6","key":"2025042313221489200_luaf072-B9","doi-asserted-by":"crossref","first-page":"1106","DOI":"10.1227\/01.NEU.0000356984.92242.D5","article-title":"Do intracranial neoplasms differ in ollier disease and Maffucci syndrome? An in-depth analysis of the literature","volume":"65","author":"Ranger","year":"2009","journal-title":"Neurosurgery"},{"issue":"3","key":"2025042313221489200_luaf072-B10","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1507\/endocrj1954.28.363","article-title":"A case of Maffucci's syndrome associated with primary hyperparathyroidism","volume":"28","author":"Nemoto","year":"1981","journal-title":"Endocrinol Jpn"},{"issue":"6","key":"2025042313221489200_luaf072-B11","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1016\/0002-9343(76)90421-6","article-title":"Multiple endocrine adenomas in a patient with the Maffucci syndrome","volume":"61","author":"Schnall","year":"1976","journal-title":"Am J Med"},{"issue":"1-2","key":"2025042313221489200_luaf072-B12","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/BF02076022","article-title":"A rare case of Maffucci's syndrome combined with tuberculum sellae enchondroma, pituitary adenoma and thyroid adenoma","volume":"87","author":"Miki","year":"1987","journal-title":"Acta Neurochir (Wien)"}],"container-title":["JCEM Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/3\/6\/luaf072\/62952387\/luaf072.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/3\/6\/luaf072\/62952387\/luaf072.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:22:26Z","timestamp":1745428946000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcemcr\/article\/doi\/10.1210\/jcemcr\/luaf072\/8115919"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,18]]},"references-count":12,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,4,18]]}},"URL":"https:\/\/doi.org\/10.1210\/jcemcr\/luaf072","relation":{},"ISSN":["2755-1520"],"issn-type":[{"type":"electronic","value":"2755-1520"}],"subject":[],"published-other":{"date-parts":[[2025,6]]},"published":{"date-parts":[[2025,4,18]]},"article-number":"luaf072"}}