{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,2]],"date-time":"2025-05-02T00:10:10Z","timestamp":1746144610872,"version":"3.40.4"},"reference-count":16,"publisher":"Journal of the ASEAN Federation of Endocrine Societies (JAFES)","license":[{"start":{"date-parts":[[2025,4,29]],"date-time":"2025-04-29T00:00:00Z","timestamp":1745884800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J ASEAN Fed Endocr Soc"],"abstract":"<jats:p>Pheochromocytomas and paragangliomas syndrome are grouped into three specific disease clusters based on their underlying genetic alterations. Pathogenic variants affecting the myelocytomatosis-associated factor X (MAX) gene predispose pheochromocytomas and paragangliomas syndrome to occur at younger ages, with more than half having bilateral pheochromocytomas. We report a case of bilateral pheochromocytomas with a novel pathogenic variant identified in the MAX gene (c.234_235dup). This young male \u00a0was found to have a huge left suprarenal mass after he presented with severe hypertension and myocardial infarction. His endocrine workup confirmed a diagnosis of pheochromocytoma as evidenced by elevated levels of normetanephrine, metanephrine, and 3-methoxytyramine in the urine. CT of the adrenal glands revealed bilateral adrenal masses; the widest diameter for the left adrenal mass was almost 8 cm whereas for the right one was 2 cm. 68Gallium-DOTATATE functional imaging showed significant uptake in the left adrenal mass, but indeterminate on the right, and no significant uptake was seen elsewhere to suggest metastatic lesions. He did not have syndromic features associated with multiple endocrine neoplasia, neurofibromatosis or von Hippel Lindau disease. The collective findings raised the clinical dilemma of\u00a0whether unilateral or bilateral adrenalectomy should be pursued. The detection of pathogenic MAX gene was therefore crucial in guiding personalized treatment strategy. Following the bilateral adrenalectomy, his hypertension was cured. Annual biochemical screening and 2-yearly MRI imaging to look for recurrence of pheochromocytomas were planned according to international consensus.<\/jats:p>","DOI":"10.15605\/jafes.040.01.16","type":"journal-article","created":{"date-parts":[[2025,5,1]],"date-time":"2025-05-01T23:27:56Z","timestamp":1746142076000},"source":"Crossref","is-referenced-by-count":0,"title":["Bilateral Pheochromocytoma with a Novel Pathogenic Variant in the MAX Gene"],"prefix":"10.15605","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0840-9671","authenticated-orcid":false,"given":"Chee Koon","family":"Low","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kausalyaa","family":"Krishnabalan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Azraai Bahari","family":"Nasruddin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0217-3282","authenticated-orcid":false,"given":"Zanariah","family":"Hussein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"6244","published-online":{"date-parts":[[2025,4,29]]},"reference":[{"key":"72611","doi-asserted-by":"crossref","unstructured":"1. Casc\u00f3n A, Calsina B, Monteagudo, et al. Genetic bases of pheochromocytoma and paraganglioma. J Mol Endocrinol. 2023;70(3):e220167. https:\/\/pubmed.ncbi.nlm.nih.gov\/36520714 https:\/\/pubmed.ncbi.nlm.nih.gov\/10.1530\/JME-22-0167","DOI":"10.1530\/JME-22-0167"},{"key":"72613","doi-asserted-by":"crossref","unstructured":"2. Jhawar S, Arakawa Y, Kumar S, et al. New insights on the genetics of pheochromocytoma and paraganglioma and its clinical implications. 2022;14(3)594. https:\/\/pubmed.ncbi.nlm.nih.gov\/35158861","DOI":"10.3390\/cancers14030594"},{"key":"72615","unstructured":"PMC8833412 https:\/\/pubmed.ncbi.nlm.nih.gov\/10.3390\/cancers14030594"},{"key":"72617","doi-asserted-by":"crossref","unstructured":"3. Crona J, Taieb D, Pacak K. New perspectives on pheochromocytoma and paraganglioma: Toward a molecular classification. Endocr Rev. 2017;38(6):489\u2013515. https:\/\/pubmed.ncbi.nlm.nih.gov\/28938417 https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC5716829 https:\/\/pubmed.ncbi.nlm.nih.gov\/10.1210\/er.2017-00062","DOI":"10.1210\/er.2017-00062"},{"key":"72619","doi-asserted-by":"crossref","unstructured":"4. Turin CG, Crenshaw MM, Fishbein L. Pheochromocytoma and paraganglioma: Germline characteristics and hereditary syndromes. 2022;2(1):R65\u201377. https:\/\/pubmed.ncbi.nlm.nih.gov\/37435466 https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC10259326 https:\/\/pubmed.ncbi.nlm.nih.gov\/10.1530\/EO-22-0044","DOI":"10.1530\/EO-22-0044"},{"key":"72621","doi-asserted-by":"crossref","unstructured":"5. Lenders JWM, Duh QY, Eisenhofer G, et al. Pheochromocytoma and paraganglioma: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2014;99(6):1915\u201342. https:\/\/pubmed.ncbi.nlm.nih.gov\/24893135 https:\/\/pubmed.ncbi.nlm.nih.gov\/10.1210\/jc.2014-1498","DOI":"10.1210\/jc.2014-1498"},{"key":"72623","doi-asserted-by":"crossref","unstructured":"6. Burciulescu SML, Gheorghiu ML, Muresan A, et al. Bilateral pheochromocytomas: Clinical presentation and morbidity rate related to surgery technique and genetic status. Endocr Connect. 2024;13(4):e230466. https:\/\/pubmed.ncbi.nlm.nih.gov\/38318817","DOI":"10.1530\/EC-23-0466"},{"key":"72625","unstructured":"PMC10959043 https:\/\/pubmed.ncbi.nlm.nih.gov\/10.1530\/EC-23-0466"},{"key":"72627","unstructured":"7. Hussein Z. Genetic mutation screening in a Malaysian cohort with non-syndromic pheochromocytoma\/paraganglioma. Poster Board MON-0792. Presented at: International Congress of Endocrinology\/ Endocrine Society 96th Annual Meeting; June 2014; Chicago, USA. Accessed August 18, 2024. https:\/\/www.researchgate.net\/publication\/301342909_Genetic_Mutation_Screening_in_a_Malaysian_Cohort_with_Non-Syndromic_Pheochromocytoma_Paraganglioma"},{"key":"72629","doi-asserted-by":"crossref","unstructured":"8. Neumann HP, Young WF, Krauss T, et al. 65 years of the double helix: Genetics informs precision practice in the diagnosis and management of pheochromocytoma. Endocr Relat Cancer. 2018;25(8):T201\u201319. https:\/\/pubmed.ncbi.nlm.nih.gov\/29794110 https:\/\/pubmed.ncbi.nlm.nih.gov\/10.1530\/ERC-18-0085","DOI":"10.1530\/ERC-18-0085"},{"key":"72631","doi-asserted-by":"crossref","unstructured":"9. Burnichon N, Casc\u00f3n A, Schiavi F, et al. MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma. Clin Cancer Res. 2012;18(10):2828\u201337. https:\/\/pubmed.ncbi.nlm.nih.gov\/22452945 https:\/\/pubmed.ncbi.nlm.nih.gov\/10.1158\/1078-0432.CCR-12-0160","DOI":"10.1158\/1078-0432.CCR-12-0160"},{"key":"72633","doi-asserted-by":"crossref","unstructured":"10. Daly AF, Castermans EC, Oudijk L, et al. Pheochromocytomas and pituitary adenomas in three patients with MAX exon deletions. Endocr Relat Cancer. 2018;25(5):L37\u201342. https:\/\/pubmed.ncbi.nlm.nih.gov\/29535143 https:\/\/pubmed.ncbi.nlm.nih.gov\/10.1530\/ERC-18-0065","DOI":"10.1530\/ERC-18-0065"},{"key":"72635","doi-asserted-by":"crossref","unstructured":"11. Zawadzka K, Tylec P, Malczak P, et al. Total versus partial adrenalectomy in bilateral pheochromocytoma \u2013 a systematic review and meta-analysis. Front Endocrinol (Lausanne). 2023:14:1127676. https:\/\/pubmed.ncbi.nlm.nih.gov\/36998480","DOI":"10.3389\/fendo.2023.1127676"},{"key":"72637","unstructured":"PMC10043479 https:\/\/pubmed.ncbi.nlm.nih.gov\/10.3389\/fendo.2023.1127676"},{"key":"72639","doi-asserted-by":"crossref","unstructured":"12. N\u00f6lting S, Bechmann N, Taieb D, et al. Personalized management of pheochromocytoma and paraganglioma. Endocr Rev. 2022;43(2):199\u2013239. https:\/\/pubmed.ncbi.nlm.nih.gov\/34147030","DOI":"10.1210\/endrev\/bnab019"},{"key":"72641","unstructured":"PMC8905338 https:\/\/pubmed.ncbi.nlm.nih.gov\/10.1210\/endrev\/bnab019"}],"container-title":["Journal of the ASEAN Federation of Endocrine Societies"],"original-title":[],"link":[{"URL":"https:\/\/www.asean-endocrinejournal.org\/index.php\/JAFES\/article\/download\/4907\/4409","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.asean-endocrinejournal.org\/index.php\/JAFES\/article\/download\/4907\/4409","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,1]],"date-time":"2025-05-01T23:28:07Z","timestamp":1746142087000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.asean-endocrinejournal.org\/index.php\/JAFES\/article\/view\/4907"}},"subtitle":["A Case Report"],"short-title":[],"issued":{"date-parts":[[2025,4,29]]},"references-count":16,"URL":"https:\/\/doi.org\/10.15605\/jafes.040.01.16","relation":{},"ISSN":["2308-118X","0857-1074"],"issn-type":[{"value":"2308-118X","type":"electronic"},{"value":"0857-1074","type":"print"}],"subject":[],"published":{"date-parts":[[2025,4,29]]}}}