{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T01:03:11Z","timestamp":1785805391896,"version":"3.56.0"},"reference-count":36,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,6,28]],"date-time":"2016-06-28T00:00:00Z","timestamp":1467072000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004359","name":"Vetenskapsr\u00e5det","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007464","name":"Torsten S\u00f6derbergs Stiftelse","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007464","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2016,10]]},"abstract":"Summary<\/jats:title>Objective<\/jats:title>The prevalence of autoimmune polyendocrine syndrome type 1 (APS<\/jats:styled-content>1) among isolated hypoparathyroidism (HP<\/jats:styled-content>) or primary adrenal insufficiency (PAI<\/jats:styled-content>) is not well established. We studied the frequency of APS<\/jats:styled-content>1 in patients with HP<\/jats:styled-content> or PAI<\/jats:styled-content> by measuring interferon\u2010\u03b1 (IFN<\/jats:styled-content>\u2010\u03b1) antibody levels, a highly sensitive and specific marker for APS<\/jats:styled-content>1.<\/jats:p><\/jats:sec>Design, patients and measurements<\/jats:title>In a single\u2010centre cross\u2010sectional study, 37 Indian patients with isolated HP<\/jats:styled-content> and 40 patients with PAI<\/jats:styled-content> were tested for IFN<\/jats:styled-content>\u2010\u03b1 antibody using an indirect ELISA<\/jats:styled-content>. In patients with elevated IFN<\/jats:styled-content>\u2010\u03b1 antibody, the autoimmune regulator (AIRE<\/jats:styled-content>)<\/jats:italic> gene was bidirectionally sequenced.<\/jats:p><\/jats:sec>Results<\/jats:title>Three (8\u00b71%) patients with isolated HP<\/jats:styled-content> had elevated IFN<\/jats:styled-content>\u2010\u03b1 antibody levels (range: 367\u201317382 units; positive titre >56 units). Homozygous or compound heterozygous AIRE<\/jats:styled-content><\/jats:italic> mutations were detected in all three patients, including a novel mutation (p.T68P). All three APS<\/jats:styled-content>1 patients had atypical features. The first patient, diagnosed at 7 years of age, died suddenly 5 months later. The second patient had late\u2010onset HP<\/jats:styled-content> (at the age of 34 years) and a solitary episode of transient mucocutaneous candidiasis 5 years later. The final patient developed HP<\/jats:styled-content> at the age of 14 years and premature ovarian insufficiency 14 years later. Interleukin\u201022 antibodies, as well as most other organ\u2010specific antibodies, were absent in the 3 APS<\/jats:styled-content>1 patients. All patients with PAI<\/jats:styled-content> were negative for IFN<\/jats:styled-content>\u2010\u03b1 antibody.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>Eight percentage of patients with isolated HP<\/jats:styled-content> had elevated IFN<\/jats:styled-content>\u2010\u03b1 antibody levels and AIRE<\/jats:styled-content><\/jats:italic> mutation\u2010positive APS<\/jats:styled-content>1. All APS<\/jats:styled-content>1 patients had atypical clinical features. Testing for IFN<\/jats:styled-content>\u2010\u03b1 antibody should be considered in patients with idiopathic HP<\/jats:styled-content>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.13111","type":"journal-article","created":{"date-parts":[[2016,5,24]],"date-time":"2016-05-24T20:22:37Z","timestamp":1464121357000},"page":"544-550","source":"Crossref","is-referenced-by-count":14,"title":["Identification of autoimmune polyendocrine syndrome type 1 in patients with isolated hypoparathyroidism"],"prefix":"10.1111","volume":"85","author":[{"given":"Saroj K.","family":"Sahoo","sequence":"first","affiliation":[{"name":"Department of Endocrinology Sanjay Gandhi Postgraduate Institute of Medical Sciences Lucknow India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghazala","family":"Zaidi","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Sanjay Gandhi Postgraduate Institute of Medical Sciences Lucknow 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