{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T08:59:34Z","timestamp":1780995574754,"version":"3.54.1"},"reference-count":21,"publisher":"The Endocrine Society","issue":"7","license":[{"start":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T00:00:00Z","timestamp":1780963200000},"content-version":"vor","delay-in-days":20,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000156","name":"Fonds de recherche du Qu\u00e9bec\u2014Sant\u00e9","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000156","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Formation de recherche pour les r\u00e9sidents-R\u00e9sidence compl\u00e9mentaire en recherche: phase 1 FRQS"},{"DOI":"10.13039\/100009326","name":"Cancer Research Society","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009326","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007671","name":"Centre de Recherche du CHUM","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007671","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000156","name":"FRQS","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000156","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,5,20]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>We present the case of a patient with bilateral pheochromocytomas and newly diagnosed nonclassical congenital adrenal hyperplasia (NCCAH). While NCCAH is relatively common, pheochromocytomas are extremely rare. The patient is a 29-year-old woman who was referred for investigation of hirsutism, with a past medical history of hypertension since the age of 18 and precocious pubarche. Magnetic resonance imaging (MRI) showed a right adrenal mass of 4.4 \u00d7 4.7\u2005cm and a left adrenal mass of 2.9 \u00d7 2.9\u2005cm. Biochemical testing confirmed NCCAH and also revealed elevated 24-hour urinary catecholamines, as well as increased plasma metanephrines. The patient underwent bilateral adrenalectomy, which confirmed the diagnosis of bilateral pheochromocytomas. Genetic testing identified a heterozygous pathogenic germline variant in the MAX gene (deletion exons 1-2) that led to complete loss of expression of MAX in the tumors. Moreover, CYP21A2 gene sequencing revealed a germline homozygous CYP21A2 c.844G&amp;gt; T (p.Val282Leu) pathogenic variant supporting the diagnosis of NCCAH. In summary, this case presents the rare coexistence of bilateral pheochromocytomas with a germline MAX pathogenic variant and NCCAH.<\/jats:p>","DOI":"10.1210\/jcemcr\/luag011","type":"journal-article","created":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T10:15:42Z","timestamp":1769422542000},"source":"Crossref","is-referenced-by-count":0,"title":["Nonclassic congenital adrenal hyperplasia and bilateral pheochromocytomas in a patient with a germline pathogenic\n                    <i>MAX<\/i>\n                    variant"],"prefix":"10.1210","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5960-4181","authenticated-orcid":false,"given":"Stefanie","family":"Parisien-La Salle","sequence":"first","affiliation":[{"name":"Division of Endocrinology, Department of Medicine and Research Center, Centre hospitalier de L\u2019Universit\u00e9 de Montr\u00e9al (CHUM) , Qu\u00e9bec , H2X 0C1","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Legault","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Department of Medicine and Research Center, Centre hospitalier de L\u2019Universit\u00e9 de Montr\u00e9al (CHUM) , Qu\u00e9bec , H2X 0C1","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadine","family":"Dumas","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Medicine and Research Center, CHUM , Qu\u00e9bec , H2X 0C1","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Arjane","sequence":"additional","affiliation":[{"name":"Division of Urology, Department of Surgery, H\u00f4pital Charles-Lemoyne, Centre Hospitalier de L\u2019Universit\u00e9 de Sherbrooke , Qu\u00e9bec , J4V 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