{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T20:10:02Z","timestamp":1756325402488,"version":"3.44.0"},"reference-count":10,"publisher":"BMJ","issue":"4","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,4,15]]},"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:p>A 45-year-old woman presented to us with a short-term history of nausea, vomiting and giddiness. On arrival at our hospital, examination revealed postural hypotension. Fluid resuscitation with intravenous normal saline was commenced. She also had chronic mucocutaneous candidiasis and nail changes suggestive of ectodermal dystrophy. Detailed history taking revealed that she had never attained menarche. Serum biochemistries showed hyponatraemia, hyperkalaemia, and hypocalcaemia (sodium, 127 mEq\/L; potassium, 6 mEq\/L; and albumin-corrected calcium, 6\u2009mg\/dL). Adrenocorticotropic hormone-stimulated cortisol (16.7 mcg\/dL) was suboptimal favouring adrenal insufficiency. She was started on hydrocortisone and fludrocortisone supplementation. Additionally, the parathyroid hormone was inappropriately low (3.8\u2009pg\/mL) confirming hypoparathyroidism. Oral calcium and active vitamin D supplementation were added. With the above clinical and biochemical picture, namely, clustering of primary amenorrhoea, adrenal insufficiency and hypoparathyroidism, the diagnosis pointed towards autoimmune polyglandular syndrome. Genetic workup revealed a deletion in exon 8 of the autoimmune regulator gene confirming the diagnosis of autoimmune polyendocrinopathy\u2013candidiasis\u2013ectodermal dystrophy\/autoimmune polyglandular syndrome type 1 .<\/jats:p>","DOI":"10.1136\/bcr-2021-241680","type":"journal-article","created":{"date-parts":[[2021,4,27]],"date-time":"2021-04-27T02:58:51Z","timestamp":1619492331000},"page":"e241680","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Atypical presentation of autoimmune polyglandular syndrome type 1 in the fifth decade"],"prefix":"10.1136","volume":"14","author":[{"given":"Aditya","family":"Sanjeevi","sequence":"first","affiliation":[{"name":"Internal Medicine, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adlyne Reena","family":"Asirvatham","sequence":"additional","affiliation":[{"name":"Endocrinology, Sri Ramachandra University Medical College, Chennai, Tamil Nadu, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karthik","family":"Balachandran","sequence":"additional","affiliation":[{"name":"Endocrinology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shriraam","family":"Mahadevan","sequence":"additional","affiliation":[{"name":"Endocrinology, Sri Ramachandra University Medical College, Chennai, Tamil Nadu, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,4,26]]},"reference":[{"key":"2025082712393103000_14.4.e241680.1","doi-asserted-by":"publisher","DOI":"10.1530\/EC-17-0022"},{"key":"2025082712393103000_14.4.e241680.2","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1515\/JPEM.2010.23.3.271","article-title":"Varying presentation of type 1 polyglandular failure in India","volume":"23","author":"Laway","year":"2010","journal-title":"J Pediatr Endocrinol Metab"},{"key":"2025082712393103000_14.4.e241680.3","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1590\/S0004-27302012000100009","article-title":"Autoimmune polyendocrine syndrome type 1: case report and review of literature","volume":"56","author":"Weiler","year":"2012","journal-title":"Arq Bras Endocrinol Metabol"},{"key":"2025082712393103000_14.4.e241680.4","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-16-10-1374"},{"key":"2025082712393103000_14.4.e241680.5","doi-asserted-by":"crossref","first-page":"80","DOI":"10.4274\/jcrpe.1394","article-title":"Autoimmune polyglandular syndrome type 2: a rare condition in childhood","volume":"7","author":"K\u0131rm\u0131z\u0131bekmez","year":"2015","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"2025082712393103000_14.4.e241680.6","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-021388"},{"key":"2025082712393103000_14.4.e241680.7","doi-asserted-by":"publisher","DOI":"10.1210\/jc.83.4.1049"},{"key":"2025082712393103000_14.4.e241680.8","doi-asserted-by":"publisher","DOI":"10.1210\/me.12.8.1112"},{"key":"2025082712393103000_14.4.e241680.9","first-page":"241","article-title":"Thyroid - hormone effects on steroid - hormone metabolism","volume":"53","author":"Gordon","year":"1977","journal-title":"Bull N Y Acad Med"},{"key":"2025082712393103000_14.4.e241680.10","first-page":"e96","article-title":"Autoimmune polyendocrine syndrome type 1: a rare case report and review of the literature","volume":"3","author":"Sarker","year":"2017","journal-title":"AACE Clin Case Rep"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2021-241680","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T19:39:40Z","timestamp":1756323580000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2021-241680"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4]]},"references-count":10,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2021,4,26]]},"published-print":{"date-parts":[[2021,4]]}},"alternative-id":["10.1136\/bcr-2021-241680"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2021-241680","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2021,4]]}}}