{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T21:09:43Z","timestamp":1774645783112,"version":"3.50.1"},"reference-count":15,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,5,31]],"date-time":"2021-05-31T00:00:00Z","timestamp":1622419200000},"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>There are very few cases of co-occurring pituitary adenoma (PA) and pheochromocytomas (PCC)\/paragangliomas caused by <jats:italic>MAX<\/jats:italic> mutations. No cases of familial PA in patients with <jats:italic>MAX<\/jats:italic> mutations have been described to date.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case Presentation<\/jats:title><jats:p>We describe a 38-year-old female patient, presenting with clinical and biochemical features of acromegaly and PCC of the left adrenal gland. Whole-exome sequencing was performed [NextSeq550 (Illumina, San Diego, CA, USA)] identifying a nonsense mutation in the <jats:italic>MAX<\/jats:italic> gene (NM_002382) [c.223C&amp;gt;T (p.R75X)]. The patient had a medical history of PCC of the right adrenal gland diagnosed aged 21 years and prolactinoma diagnosed aged 25 years. Cabergoline treatment was effective in achieving remission of prolactinoma at age 33 years. The patient\u2019s father who died at age 56 years of a heart attack had a medical history of PA and prominent acromegalic features, which supports the familial presentation of the disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This clinical case gives an insight into the clinical presentation of familial PA and PCC probably associated with a <jats:italic>MAX<\/jats:italic> mutation.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fendo.2021.683492","type":"journal-article","created":{"date-parts":[[2021,5,31]],"date-time":"2021-05-31T12:24:32Z","timestamp":1622463872000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":12,"title":["Familial Acromegaly and Bilateral Asynchronous Pheochromocytomas in a Female Patient With a MAX Mutation: A Case Report"],"prefix":"10.3389","volume":"12","author":[{"given":"Elizaveta","family":"Mamedova","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evgeny","family":"Vasilyev","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vasily","family":"Petrov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Svetlana","family":"Buryakina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anatoly","family":"Tiulpakov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhanna","family":"Belaya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2021,5,31]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2014-4297","article-title":"Pituitary Adenoma With Paraganglioma\/ Pheochromocytoma (3pas) and Succinate Dehydrogenase Defects in Humans and Mice","volume":"100","author":"Xekouki","year":"2015","journal-title":"J Clin Endocrinol Metab"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1530\/ERC-15-0241","article-title":"15 Years of Paraganglioma: The Association of Pituitary Adenomas and Phaeochromocytomas or Paragangliomas","volume":"100","author":"O\u2019Toole","year":"2015","journal-title":"Endocr Relat Cancer"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1055\/a-1143-5930","article-title":"Clinical and Molecular Update on Genetic Causes of Pituitary Adenomas","volume":"52","author":"Vasilev","year":"2020","journal-title":"Horm Metab Res"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1038\/ng.861","article-title":"Exome Sequencing Identifies MAX Mutations as a Cause of Hereditary Pheochromocytoma","volume":"43","author":"Comino-M\u00e9ndez","year":"2011","journal-title":"Nat Genet"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-12-0160","article-title":"MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma","volume":"18","author":"Burnichon","year":"2012","journal-title":"Clin Cancer Res"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1210\/js.2017-00135","article-title":"Case Report of a Prolactinoma in a Patient With a Novel MAX Mutation and Bilateral Pheochromocytomas","volume":"1","author":"Roszko","year":"2017","journal-title":"J Endocr Soc"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1530\/ERC-18-0065","article-title":"Pheochromocytomas and Pituitary Adenomas in Three Patients With MAX Exon Deletions","volume":"25","author":"Daly","year":"2018","journal-title":"Endocr Relat Cancer"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.4158\/ACCR-2018-0146","article-title":"Case Report of Bilateral Pheochromocytomas Due to a Novel MAX Mutation in a Patient Known to Have a Pituitary Prolactinoma","volume":"4","author":"Kobza","year":"2018","journal-title":"AACE Clin Case Rep"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgaa957","article-title":"Multiple Endocrine Tumors Associated With Germline MAX Mutations: Multiple Endocrine Neoplasia Type 5","volume":"106","author":"Seabrook","year":"2020","journal-title":"J Clin Endocrinol Metab"},{"key":"B10","doi-asserted-by":"publisher","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: Functional Annotation of Genetic Variants From High-Throughput Sequencing Data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1001\/jamaoncol.2017.0223","article-title":"European-American-Asian Pheochromocytoma-Paraganglioma Registry Study Group. Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127,\u00a0MAX, and SDHAF2 for Gene-Informed Prevention","volume":"3","author":"Bausch","year":"2017","journal-title":"JAMA Oncol"},{"key":"B12","doi-asserted-by":"publisher","first-page":"e198898","DOI":"10.1001\/jamanetworkopen.2019.8898","article-title":"Eng C; International Bilateral-Pheochromocytoma-Registry Group. Comparison of Pheochromocytoma-Specific Morbidity and Mortality Among Adults With Bilateral Pheochromocytomas Undergoing Total Adrenalectomy vs Cortical-Sparing Adrenalectomy","volume":"2","author":"Neumann","year":"2019","journal-title":"JAMA Netw Open"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2020.00234","article-title":"A Novel MAX Gene Mutation Variant in a Patient With Multiple and \u201cComposite\u201d Neuroendocrine-Neuroblastic Tumors","volume":"11","author":"Pozza","year":"2020","journal-title":"Front Endocrinol (Lausanne)"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1055\/a-1186-0790","article-title":"Pancreatic Neuroendocrine Neoplasm Associated With a Familial MAX Deletion","volume":"52","author":"Petignot","year":"2020","journal-title":"Horm Metab Res"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2020.101416","article-title":"An Overview of 20 Years of Genetic Studies in Pheochromocytoma and Paraganglioma","volume":"34","author":"Buffet","year":"2020","journal-title":"Best Pract Res Clin Endocrinol Metab"}],"container-title":["Frontiers in Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fendo.2021.683492\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,5,31]],"date-time":"2021-05-31T12:24:34Z","timestamp":1622463874000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fendo.2021.683492\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5,31]]},"references-count":15,"alternative-id":["10.3389\/fendo.2021.683492"],"URL":"https:\/\/doi.org\/10.3389\/fendo.2021.683492","relation":{},"ISSN":["1664-2392"],"issn-type":[{"value":"1664-2392","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,5,31]]},"article-number":"683492"}}