{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:17:50Z","timestamp":1784557070920,"version":"3.55.0"},"reference-count":10,"publisher":"Bioscientifica","issue":"2","license":[{"start":{"date-parts":[[2025,4,1]],"date-time":"2025-04-01T00:00:00Z","timestamp":1743465600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,4,1]]},"abstract":"\n Summary<\/jats:title>\n \n A 39 year old female with signs of hyperandrogenism, was diagnosed with congenital adrenal hyperplasia after a cortrosyn test. Abdominal tomography showed a nodular image in the right adrenal gland, measuring 1.9 \u00d7 3.1 cm, 26 UH. Screening for Cushing\u2019s syndrome and pheochromocytoma was negative. Due to the maternal family history of\n MEN2A<\/jats:italic>\n ,\n RET<\/jats:italic>\n gene testing was performed (positive), and screening for medullary thyroid carcinoma (MTC) with calcitonin was <2 pg\/mL. As the patient\u2019s father passed away due to complications of peptic ulcers and hailed from a region with high rates of MEN1, PTH and calcium levels were checked, confirming the diagnosis of primary hyperparathyroidism (pHPT). Genetic investigation for\n MEN1<\/jats:italic>\n was positive, and an MRI of the pituitary gland revealed a non-producing macroadenoma. Management of pHPT and total prophylactic thyroidectomy were recommended, with an expectant approach regarding the adrenal lesion. Histopathological examination of the thyroid revealed papillary microcarcinoma in the right lobe and parafollicular cell hyperplasia in two foci, with immunohistochemistry consistent with MTC.\n <\/jats:p>\n <\/jats:sec>\n \n Learning points<\/jats:title>\n \n \n There may be the coexistence of three rare and complex genetic syndromes in a single patient.<\/jats:p>\n <\/jats:list-item>\n \n Multiple endocrine neoplasia syndromes describe a group of heterogeneous diseases.<\/jats:p>\n <\/jats:list-item>\n \n Hyperparathyroidism is common among multiple endocrine neoplasia syndromes.<\/jats:p>\n <\/jats:list-item>\n <\/jats:list>\n <\/jats:sec>","DOI":"10.1530\/edm-24-0047","type":"journal-article","created":{"date-parts":[[2025,6,6]],"date-time":"2025-06-06T08:56:44Z","timestamp":1749200204000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":0,"title":["Double mutation for multiple endocrine neoplasia associated with congenital adrenal hyperplasia"],"prefix":"10.1530","volume":"2025","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-6161-2743","authenticated-orcid":true,"given":"Watrusy Lima","family":"de Oliveira","sequence":"first","affiliation":[{"name":"Endocrinology Program, Federal University of Cear\u00e1 (UFC), Fortaleza, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eloilda Maria","family":"de Aguiar Silva","sequence":"additional","affiliation":[{"name":"Endocrinology Program, Federal University of Cear\u00e1 (UFC), Fortaleza, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos Eduardo","family":"de Melo Oliveira","sequence":"additional","affiliation":[{"name":"UFC\/FUNCAP, Federal University of Cear\u00e1 (UFC), Fortaleza, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wellington","family":"Alves Filho","sequence":"additional","affiliation":[{"name":"Head and Neck Surgery Service, HUWC\/UFC\/EBSERH, Federal University of Cear\u00e1 (UFC), Fortaleza, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Cec\u00edlia","family":"Martins Costa","sequence":"additional","affiliation":[{"name":"Endocrinology Service, General Hospital of Fortaleza (HGF), Fortaleza, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renata","family":"Carvalho de Alencar","sequence":"additional","affiliation":[{"name":"Endocrinology Service, HUWC\/UFC\/EBSERH, Federal University of Cear\u00e1 (UFC), Fortaleza, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla Antoniana","family":"de Almeida Vieira","sequence":"additional","affiliation":[{"name":"Endocrinology and Metabology Program, HUWC\/UFC\/EBSERH, Federal University of Cear\u00e1 (UFC), Fortaleza, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1876-6410","authenticated-orcid":true,"given":"Ana Rosa","family":"Pinto Quidute","sequence":"additional","affiliation":[{"name":"Department of Physiology and Pharmacology, Drug Research and Development Center (NPDM), Faculty of Medicine, Federal University of Cear\u00e1 (UFC), Fortaleza, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"Intern Med J","first-page":"954","article-title":"Multiple endocrine neoplasia: an update","volume":"49","author":"McDonnell JE","year":"2019","unstructured":"McDonnell JE\n, \nGild ML\n, \nClifton-Bligh RJ\n, et al.\n Multiple endocrine neoplasia: an update. Intern Med J 2019 49 954\u2013961. (https:\/\/doi.org\/10.1111\/imj.14394)"},{"key":"bib2","series-title":"Endocr Rev","first-page":"133","article-title":"Multiple endocrine neoplasia type 1: latest insights","volume":"42","author":"Brandi ML","year":"2021","unstructured":"Brandi ML\n, \nAgarwal SK\n, \nPerrier ND\n, et al.\n Multiple endocrine neoplasia type 1: latest insights. Endocr Rev 2021 42 133\u2013170. (https:\/\/doi.org\/10.1210\/endrev\/bnaa031)"},{"key":"bib3","series-title":"Endotext","article-title":"Multiple endocrine neoplasia type 2","author":"Van Treijen MJC","year":"2022","unstructured":"Van Treijen MJC\n, \nde Vries LH\n, \nHertog D\n, et al\n. Multiple endocrine neoplasia type 2. In Endotext. Eds \n\nKR Feingold\n, \nB Anawalt\n, \nMR Blackman\n, et al\n. South Dartmouth, (MA): MDText.com, 2022. (https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK481898\/)"},{"key":"bib4","series-title":"Acta Med Port","first-page":"99","article-title":"Late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency: revision of literature and preconception genetic study of five couples","volume":"24","author":"Vieira A","year":"2011","unstructured":"Vieira A\n, \nPaiva S\n, \nBaptista C\n, et al.\n Late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency: revision of literature and preconception genetic study of five couples. Acta Med Port 2011 24 99\u2013110."},{"key":"bib5","series-title":"J Clin Exp Dentistry","first-page":"e396","article-title":"Oral health aspects in sporadic and familial primary hyperparathyroidism","volume":"14","author":"Cardoso FB","year":"2022","unstructured":"Cardoso FB\n, \nCosta FW\n, \nSoares CE\n, et al.\n Oral health aspects in sporadic and familial primary hyperparathyroidism. J Clin Exp Dentistry 2022 14 e396\u2013e403. (https:\/\/doi.org\/10.4317\/jced.59527)"},{"key":"bib6","series-title":"Int J Endocr Oncol","first-page":"89","article-title":"A patient with MEN1 typical features and MEN2-like features","volume":"3","author":"El-Maouche D","year":"2016","unstructured":"El-Maouche D\n, \nWelch J\n, \nAgarwal SK\n, et al.\n A patient with MEN1 typical features and MEN2-like features. Int J Endocr Oncol 2016 3 89\u201395. (https:\/\/doi.org\/10.2217\/ije-2015-0008)"},{"key":"bib7","series-title":"Thyroid","first-page":"1744","article-title":"Medullary thyroid carcinoma associated with germline RETK666N mutation","volume":"12","author":"Xu JY","year":"2016","unstructured":"Xu JY\n, \nGrubbs EG\n, \nWaguespack SG\n, et al.\n Medullary thyroid carcinoma associated with germline RETK666N mutation. Thyroid 2016 12 1744\u20131751. (https:\/\/doi.org\/10.1089\/thy.2016.0374)"},{"key":"bib8","series-title":"Eur J Endocrinol","first-page":"771","article-title":"Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitro","volume":"162","author":"Muzza M","year":"2010","unstructured":"Muzza M\n, \nCordella D\n, \nBombled J\n, et al.\n Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitro. Eur J Endocrinol 2010 162 771\u2013777. (https:\/\/doi.org\/10.1530\/EJE-09-0929)"},{"key":"bib9","series-title":"J Clin Endocrinol Metab","first-page":"1269","article-title":"A homozygous RET K666N genotype with an MEN2A phenotype","volume":"103","author":"Jaber T","year":"2018","unstructured":"Jaber T\n, \nHyde SM\n, \nCote GJ\n, et al.\n A homozygous RET K666N genotype with an MEN2A phenotype. J Clin Endocrinol Metab 2018 103 1269\u20131272. (https:\/\/doi.org\/10.1210\/jc.2017-02402)"},{"key":"bib10","series-title":"Endocrine","first-page":"481","article-title":"Coexistence of multiple endocrine neoplasia type 1 and type 2 in a large Italian family","volume":"40","author":"Mastroianno S","year":"2011","unstructured":"Mastroianno S\n, \nTorlontano M\n, \nScillitani A\n, et al.\n Coexistence of multiple endocrine neoplasia type 1 and type 2 in a large Italian family. Endocrine 2011 40 481\u2013485. (https:\/\/doi.org\/10.1007\/s12020-011-9501-2)"}],"container-title":["Endocrinology, Diabetes & Metabolism Case Reports"],"original-title":[],"link":[{"URL":"https:\/\/edm.bioscientifica.com\/view\/journals\/edm\/2025\/2\/EDM-24-0047.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/edm.bioscientifica.com\/downloadpdf\/journals\/edm\/2025\/2\/EDM-24-0047.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/edm.bioscientifica.com\/downloadpdf\/journals\/edm\/2025\/2\/EDM-24-0047.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:48:26Z","timestamp":1784555306000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.bioscientifica.com\/edm\/article\/3826"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,1]]},"references-count":10,"journal-issue":{"issue":"2"},"URL":"https:\/\/doi.org\/10.1530\/edm-24-0047","relation":{},"ISSN":["2052-0573"],"issn-type":[{"value":"2052-0573","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,1]]}}}