{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,29]],"date-time":"2026-01-29T21:40:09Z","timestamp":1769722809076,"version":"3.49.0"},"reference-count":10,"publisher":"Scientific Scholar","content-domain":{"domain":["clinicalimagingscience.org"],"crossmark-restriction":true},"short-container-title":[],"abstract":"<jats:p>Autoimmune Polyglandular Syndrome (APS) Type 1 is a rare hereditary disorder that damages organs in the body. This disease entity is the result of a mutation in the AIRE gene. It is characterized by three classic clinical features - hypoparathyroidism, Addison's disease, and chronic mucocutaneous candidiasis. For a patient to be diagnosed as having APS Type 1 syndrome at least two of these features needs to be present. The third entity may develop as the disease progresses. We report a case of a 35-year-old female patient with a history of seizure from the age of 11 years, who was managed with anticonvulsant drugs. With worsening of the seizure episodes, patient was diagnosed to have hypoparathyroidism together with the manifestations of oral candidiasis, nails dystrophy, enamel hypoplasia, and hypogonadism. A diagnosis of APS-1 was considered. The facility for genetic analysis of the AIRE gene mutation was not accessible, as the test costs were prohibitive and not affordable for the patient. Patient management was directed to treating individual disease components. However, cerebral and dental changes were irreversible.<\/jats:p>","DOI":"10.4103\/2156-7514.103018","type":"journal-article","created":{"date-parts":[[2012,10,31]],"date-time":"2012-10-31T10:24:56Z","timestamp":1351679096000},"page":"62","update-policy":"https:\/\/doi.org\/10.25259\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Autoimmune Polyglandular Syndrome Type 1"],"prefix":"10.25259","volume":"2","author":[{"given":"Vedeswari C.","family":"Ponranjini","sequence":"first","affiliation":[{"name":"Department of Oral Medicine and Radiology, Sri Ramachandra University, Chennai, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Jayachandran","sequence":"additional","affiliation":[{"name":"Department of Oral Medicine and Radiology, Tamilnadu Government Dental College and Hospital, Chennai, Tamilnadu, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Kayal","sequence":"additional","affiliation":[{"name":"Department of Oral Medicine and Radiology, Tamilnadu Government Dental College and Hospital, Chennai, Tamilnadu, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Bakyalakshmi","sequence":"additional","affiliation":[{"name":"Department of Oral Medicine and Radiology, Tamilnadu Government Dental College and Hospital, Chennai, Tamilnadu, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10894","published-online":{"date-parts":[[2012,10,31]]},"reference":[{"key":"10.4103\/2156-7514.103018\/ref-1","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 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hypoparathyroidism","volume":"88","author":"Rastogi","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"10.4103\/2156-7514.103018\/ref-6","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1016\/j.tripleo.2008.11.017","article-title":"Cessation of dental development in a child with idiopathic hypoparathyroidism: A 5-year follow-up","volume":"107","author":"Kelly","year":"2009","journal-title":"Oral Surg Oral Med Oral Pathol Oral Radiol Endod"},{"key":"10.4103\/2156-7514.103018\/ref-7","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1007\/BF03262642","article-title":"Oral health in Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED)","volume":"9","author":"McGovern","year":"2008","journal-title":"Eur Arch Paediatr Dent"},{"key":"10.4103\/2156-7514.103018\/ref-8","doi-asserted-by":"crossref","first-page":"1829","DOI":"10.1056\/NEJM199006283222601","article-title":"Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients","volume":"322","author":"Ahonen","year":"1990","journal-title":"N Engl J Med"},{"key":"10.4103\/2156-7514.103018\/ref-9","doi-asserted-by":"crossref","first-page":"1049","DOI":"10.1210\/jcem.83.4.4682","article-title":"Clinical review 93: Autoimmune polyglandular syndrome type I","volume":"83","author":"Betterle","year":"1998","journal-title":"J Clin Endocrinol Metab"},{"key":"10.4103\/2156-7514.103018\/ref-10","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1016\/S0889-8529(01)00013-5","article-title":"APS-I\/APECED: The clinical disease and therapy","volume":"31","author":"Perheentupa","year":"2002","journal-title":"Endocrinol Metab Clin North Am"}],"container-title":["Journal of Clinical Imaging 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