{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T01:25:26Z","timestamp":1784165126731,"version":"3.55.0"},"reference-count":30,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T00:00:00Z","timestamp":1768780800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"SNUH Research Fund"},{"name":"Patient-Centered Clinical Research Coordinating Center"},{"name":"Ministry of Health & Welfare, Republic of Korea","award":["RS-2024-00397426"],"award-info":[{"award-number":["RS-2024-00397426"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,2,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Bilateral macronodular adrenocortical disease (BMAD) is a rare disorder characterized by bilateral adrenocortical nodules and variable cortisol excess. ARMC5 is a well-established genetic driver of BMAD, but data in East Asian populations are limited. We investigated the prevalence of pathogenic variants and genotype\u2013phenotype correlations in Korean patients with BMAD.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A total of 69 patients with BMAD were retrospectively enrolled at Seoul National University Hospital (2009-2023). Whole-exome sequencing was performed for 35 patients. Clinical, biochemical, and imaging data were analyzed. Serum steroid profiling was conducted using liquid chromatography\u2013tandem mass spectrometry (LC-MS\/MS) to quantify 18 adrenal-derived steroids.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The mean age of the cohort was 66.4 years, and 58% were male. Most had mild autonomous cortisol secretion (79.7%), and 15.9% had overt Cushing syndrome. Among the 35 patients who underwent genetic testing, 22.9% harbored pathogenic\/likely pathogenic (P\/LP) variants in ARMC5. P\/LP ARMC5 variant carriers had lower BMI (25.0 vs 27.4\u2005kg\/m2), larger maximal tumor diameter (4.1 vs 2.7\u2005cm), and greater total adrenal volume (19.8 vs 15.3\u2005cm3). LC-MS\/MS profiling revealed that P\/LP ARMC5 carriers had significantly higher cortisol (153.1 vs 100.6\u2005ng\/mL), corticosterone (16.5 vs 1.3\u2005ng\/mL), and 18-hydroxycortisol concentrations (1.66 vs .66\u2005ng\/mL) (P &amp;lt; .05).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This study in a Korean cohort with BMAD showed that P\/LP ARMC5 variants were present in 22.9% of the genetically investigated patients and were associated with more severe radiological and steroidogenic features. These findings underscore the importance of closely monitoring patients with BMAD who carry ARMC5 P\/LP variants.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ejendo\/lvag014","type":"journal-article","created":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T12:42:45Z","timestamp":1768480965000},"page":"114-122","source":"Crossref","is-referenced-by-count":1,"title":["Genetics and clinical characteristics of Korean patients with bilateral macronodular adrenocortical disease"],"prefix":"10.1093","volume":"194","author":[{"given":"Seung Shin","family":"Park","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Seoul National University College of Medicine , Seoul 03080 ,","place":["Korea"]},{"name":"Department of Internal Medicine, Seoul National University Hospital , Seoul 03080 ,","place":["Korea"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jee-Soo","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of 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