{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T19:21:48Z","timestamp":1793906508229,"version":"4.8.0"},"reference-count":23,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,5,12]]},"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:p>Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), known as autoimmune polyglandular syndrome type 1, has largely been described in patients of European origin. APECED is a rare condition caused by mutations in the autoimmune regulator (<jats:italic>AIRE<\/jats:italic>) gene. We report the first case of APECED in a Vietnamese boy who presented with hypotension due to adrenal crisis leading to the accidental diagnosis of APECED. His clinical manifestations were typical, with mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency. DNA sequencing showed homozygosity for the c.769C&gt;T variant, which is one of the most common variants of the <jats:italic>AIRE<\/jats:italic> gene. His symptoms improved with adrenal hormone replacement therapy, calcitriol and calcium supplements for hypoparathyroidism and oral fluconazole for onychomycosis. Given that APECED is easily misdiagnosed due to its rarity in Asian population and other non-Europeans, leading to overlooked life-threatening complications, paediatricians should be aware of APECED in patients from these populations presenting with unexplained hypotension associated with mucocutaneous candidiasis or any endocrinopathy manifestation.<\/jats:p>","DOI":"10.1136\/bcr-2025-264874","type":"journal-article","created":{"date-parts":[[2025,5,26]],"date-time":"2025-05-26T23:25:29Z","timestamp":1748301929000},"page":"e264874","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Delayed diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a Vietnamese adolescent male presenting with hypotension"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6676-7229","authenticated-orcid":false,"given":"Binh Thanh","family":"Le","sequence":"first","affiliation":[{"name":"Department of Nephro-endocrinology, City Children\u2019s Hospital, Ho Chi Minh City, Viet Nam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5639-0728","authenticated-orcid":false,"given":"Tien Quoc","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Nephro-endocrinology, City Children\u2019s Hospital, Ho Chi Minh City, Viet Nam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cam Thao","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Nephro-endocrinology, City Children\u2019s Hospital, Ho Chi Minh City, Viet Nam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anh Xuan","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Nephro-endocrinology, City Children\u2019s Hospital, Ho Chi Minh City, Viet Nam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9300-0047","authenticated-orcid":false,"given":"Cuong Minh","family":"Duong","sequence":"additional","affiliation":[{"name":"School of Population Health, University of New South Wales Faculty of Medicine, Sydney, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2025,5,26]]},"reference":[{"key":"2025082703591225000_18.5.e264874.1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2796.2009.02090.x"},{"key":"2025082703591225000_18.5.e264874.2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1713301"},{"key":"2025082703591225000_18.5.e264874.3","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-015-0176-y"},{"key":"2025082703591225000_18.5.e264874.4","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-2611"},{"key":"2025082703591225000_18.5.e264874.5","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1172\/jci.insight.88782","article-title":"Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy","volume":"1","author":"Ferre","year":"2016","journal-title":"JCI Insight"},{"key":"2025082703591225000_18.5.e264874.6","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2016-1821"},{"key":"2025082703591225000_18.5.e264874.7","doi-asserted-by":"crossref","first-page":"103135","DOI":"10.1016\/j.autrev.2022.103135","article-title":"Autoimmune polyendocrine syndrome type 1: Clinical manifestations, pathogenetic features, and management approach","volume":"21","author":"Bj\u00f8rklund","year":"2022","journal-title":"Autoimmun Rev"},{"key":"2025082703591225000_18.5.e264874.8","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt1113"},{"key":"2025082703591225000_18.5.e264874.9","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-15-0628"},{"key":"2025082703591225000_18.5.e264874.10","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2015-1710"},{"key":"2025082703591225000_18.5.e264874.11","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/j.ijid.2005.08.001","article-title":"Adrenal infections","volume":"10","author":"Paolo","year":"2006","journal-title":"Int J Infect Dis"},{"key":"2025082703591225000_18.5.e264874.12","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1080\/22221751.2019.1644539","article-title":"Mapping histoplasmosis in South East Asia - 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