{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T21:53:29Z","timestamp":1770069209490,"version":"3.49.0"},"reference-count":26,"publisher":"The Endocrine Society","issue":"8","license":[{"start":{"date-parts":[[2021,6,3]],"date-time":"2021-06-03T00:00:00Z","timestamp":1622678400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100001006","name":"Breast Cancer Research Foundation","doi-asserted-by":"publisher","award":["BCRF-19-172"],"award-info":[{"award-number":["BCRF-19-172"]}],"id":[{"id":"10.13039\/100001006","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Conquer Cancer Research Professorship in Breast Cancer Disparities"},{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["RC4CA153828"],"award-info":[{"award-number":["RC4CA153828"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,8,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Inherited MYC-associated factor X (MAX) gene pathogenic variants (PVs) increase risk for pheochromocytomas (PCCs) and\/or paragangliomas (PGLs) in adults and children. There is little clinical experience with such mutations.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>This report highlights an important approach.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Clinical assessment, including blood chemistry, imaging studies, and genetic testing were performed.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>A 38-year-old Hispanic woman was diagnosed with PCC in 2015, treated with adrenalectomy, and referred to endocrinology clinic. Notably, she presented to her primary care physician 3 years earlier complaining of left flank pain, intermittent diaphoresis, and holocranial severe headache. We confirmed severe hypertension (180\/100 mm Hg) over multiple antihypertensive regimens. Biochemical and radiological studies workup revealed high plasma metanephrine of 255 pg\/mL (normal range, &amp;lt;\u200565 pg\/mL) and plasma normetanephrine of 240 pg\/mL (normal range, &amp;lt;\u2005196 pg\/mL). A noncontrast computed tomography scan of the abdomen revealed a 4.2\u2005\u00d7\u20054.3\u2005\u00d7\u20054.9-cm, round-shaped and heterogenous contrast enhancement of the left adrenal gland, and a 2-mm nonobstructive left kidney stone. A presumptive diagnosis of secondary hypertension was made. After pharmacological therapy, laparoscopic left adrenalectomy was performed and confirmed the diagnosis of pheochromocytoma. Based on her age, family history, and a high suspicion for genetic etiology, genetic testing was performed that revealed the presence of a novel likely pathogenic variant involving a splice consensus sequence in the MAX gene, designated c0.64-2A\u2005&amp;gt;\u2005G.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>The phenotype of MAX PV-related disease and paraganglioma are highlighted. The novel c0.64-2A\u2005&amp;gt;\u2005G mutation is reported here and should be considered in the diagnostic workup of similar cases.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/jendso\/bvab085","type":"journal-article","created":{"date-parts":[[2021,6,3]],"date-time":"2021-06-03T14:10:17Z","timestamp":1622729417000},"source":"Crossref","is-referenced-by-count":3,"title":["A Novel, Likely Pathogenic <i>MAX<\/i> Germline Variant in a Patient With Unilateral Pheochromocytoma"],"prefix":"10.1210","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2156-3753","authenticated-orcid":false,"given":"C\u00e9sar Ernesto","family":"Lam-Chung","sequence":"first","affiliation":[{"name":"Neuroendocrinology Clinic, Department of Endocrinology and Metabolism, Instituto Nacional de Ciencias M\u00e9dicas y Nutrici\u00f3n Salvador Zubir\u00e1n, Tlalpan 14000, Mexico City, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Larissa L\u00f3pez","family":"Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Department of Genetics, Instituto Nacional de Ciencias M\u00e9dicas y Nutrici\u00f3n Salvador Zubir\u00e1n, Tlalpan 14000, Mexico City, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jazm\u00edn Arteaga","family":"V\u00e1zquez","sequence":"additional","affiliation":[{"name":"Department of Genetics, Instituto Nacional de Ciencias M\u00e9dicas y Nutrici\u00f3n Salvador Zubir\u00e1n, Tlalpan 14000, Mexico City, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanin","family":"Ch\u00e1varri-Guerra","sequence":"additional","affiliation":[{"name":"Department of Hemato-Oncology, Instituto Nacional de Ciencias M\u00e9dicas y Nutrici\u00f3n Salvador Zubir\u00e1n, Tlalpan 14000, Mexico City, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebeca","family":"Ar\u00edzaga-Ram\u00edrez","sequence":"additional","affiliation":[{"name":"Department of Pathology, Instituto Nacional de Ciencias M\u00e9dicas y Nutrici\u00f3n Salvador Zubir\u00e1n, Tlalpan 14000, Mexico City, Mexico"},{"name":"Department of Radiology and Imaging, Instituto Nacional de Ciencias M\u00e9dicas y Nutrici\u00f3n Salvador Zubir\u00e1n, Tlalpan 14000, Mexico City, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Orlando Falcon","family":"Antonio","sequence":"additional","affiliation":[{"name":"Department of Pathology, Instituto Nacional de Ciencias M\u00e9dicas y Nutrici\u00f3n Salvador Zubir\u00e1n, Tlalpan 14000, Mexico City, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jazm\u00edn","family":"De Anda Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Department of Pathology, Instituto Nacional de Ciencias M\u00e9dicas y Nutrici\u00f3n Salvador Zubir\u00e1n, Tlalpan 14000, Mexico City, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Aurelia","family":"L\u00f3pez-Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Department of Genetics, Instituto Nacional de Ciencias M\u00e9dicas y Nutrici\u00f3n Salvador Zubir\u00e1n, Tlalpan 14000, Mexico City, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeffrey N","family":"Weitzel","sequence":"additional","affiliation":[{"name":"City of Hope Cancer Center, Duarte, California 91010, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danielle","family":"Castillo","sequence":"additional","affiliation":[{"name":"City of Hope Cancer Center, Duarte, California 91010, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francisco Javier","family":"G\u00f3mez-P\u00e9rez","sequence":"additional","affiliation":[{"name":"Neuroendocrinology Clinic, Department of Endocrinology and Metabolism, Instituto Nacional de Ciencias M\u00e9dicas y Nutrici\u00f3n Salvador Zubir\u00e1n, Tlalpan 14000, Mexico City, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6330-670X","authenticated-orcid":false,"given":"Daniel","family":"Cuevas-Ramos","sequence":"additional","affiliation":[{"name":"Neuroendocrinology Clinic, Department of Endocrinology and Metabolism, Instituto Nacional de Ciencias M\u00e9dicas y Nutrici\u00f3n Salvador Zubir\u00e1n, Tlalpan 14000, Mexico City, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2021,6,3]]},"reference":[{"issue":"9","key":"2021121115285524000_CIT0001","doi-asserted-by":"crossref","first-page":"242","DOI":"10.3390\/jcm7090242","article-title":"Risk stratification on pheochromocytoma and paraganglioma from laboratory and clinical medicine","volume":"7","author":"Kimura","year":"2018","journal-title":"J Clin 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