{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,12]],"date-time":"2025-12-12T12:02:41Z","timestamp":1765540961293,"version":"3.48.0"},"reference-count":9,"publisher":"Walter de Gruyter GmbH","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,11,11]]},"abstract":"Abstract<\/jats:title>\n \n Objectives<\/jats:title>\n AAA (Allgrove) syndrome is a rare genetic disorder characterized by cardinal features of adrenal insufficiency, achalasia, and alacrimia.<\/jats:p>\n <\/jats:sec>\n \n Case presentation<\/jats:title>\n A 21 year girl of known case of Triple A syndrome was referred for the evaluation of autonomic function. She was born full term with developmental delay and abnormal gait. Esophageal manometry study\u00a0by pneumatic balloon dilatation revealed the presence of achalasia cardia. She had signs of peripheral neuropathy and had episodes of fainting and suspected\u00a0orthostatic hypotension. Cardiovascular autonomic function and heart rate variability tests were conducted\u00a0as per Ewing protocol, revealed that the patient had sympathovagal imbalance and sympathetic dominance.<\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n The presence of autonomic dysfunction adds the 4th A to the Triple A syndrome (Adrenal insufficiency, Achalasia, Alacrimia and Autonomic dysfunction). Noninvasive autonomic function tests are recommended for Triple A syndrome patients to reduce the morbidity associated with autonomic dysfunction.<\/jats:p>\n <\/jats:sec>","DOI":"10.1515\/jbcpp-2019-0293","type":"journal-article","created":{"date-parts":[[2020,7,10]],"date-time":"2020-07-10T08:15:10Z","timestamp":1594368910000},"source":"Crossref","is-referenced-by-count":0,"title":["4th A in a triple A syndrome \u2013 A rare case report"],"prefix":"10.1515","volume":"31","author":[{"given":"K.","family":"MaheshKumar","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Physiology , Government Yoga and Naturopathy Medical College and Hospital , Chennai , Tamil Nadu , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shriraam","family":"Mahadevan","sequence":"additional","affiliation":[{"name":"Department of Endocrinology , Sri Ramachandra Medical College and Research Institute , Sri Ramachandra Institute of Higher Education and Research (SRIHER) , Chennai , Tamil Nadu , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Padmavathi","family":"Ramaswamy","sequence":"additional","affiliation":[{"name":"Department of Physiology , Sri Ramachandra Medical College and Research Institute, Sri Ramachandra Institute of Higher Education and Research (SRIHER) , Chennai , Tamil Nadu , India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2020,6,24]]},"reference":[{"key":"2025121209170601447_j_jbcpp-2019-0293_ref_001_w2aab3b7c27b1b6b1ab2b1b1Aa","doi-asserted-by":"crossref","unstructured":"Allgrove, J, Clayden, GS, Grant, DB, Macaulay, JC. Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. The Lancet 1978;311:1284\u20136. https:\/\/doi.org\/10.1016\/s0140-6736(78)91268-0.","DOI":"10.1016\/S0140-6736(78)91268-0"},{"key":"2025121209170601447_j_jbcpp-2019-0293_ref_002_w2aab3b7c27b1b6b1ab2b1b2Aa","doi-asserted-by":"crossref","unstructured":"Tullio-Pelet, A, Salomon, R, Hadj-Rabia, S, Mugnier, C, de Laet, MH, Chaouachi, B, et al. Mutant WD-repeat protein in triple-A syndrome. Nat Genet 2000;26:332. https:\/\/doi.org\/10.1038\/81642.","DOI":"10.1038\/81642"},{"key":"2025121209170601447_j_jbcpp-2019-0293_ref_003_w2aab3b7c27b1b6b1ab2b1b3Aa","doi-asserted-by":"crossref","unstructured":"Huebner, A, Kaindl, AM, Knobeloch, KP, Petzold, H, Mann, P, Koehler, K. The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex. 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Clin Genet 2005;68:215\u201321. https:\/\/doi.org\/10.1111\/j.1399-0004.2005.00482.x.","DOI":"10.1111\/j.1399-0004.2005.00482.x"},{"key":"2025121209170601447_j_jbcpp-2019-0293_ref_006_w2aab3b7c27b1b6b1ab2b1b6Aa","doi-asserted-by":"crossref","unstructured":"Sanyal, D, Bhattacharjee, S. A case of late-onset allgrove syndrome presenting with predominant autonomic dysfunction. Ann Indian Acad Neurol 2013;16:266. https:\/\/doi.org\/10.4103\/0972-2327.112494.","DOI":"10.4103\/0972-2327.112494"},{"key":"2025121209170601447_j_jbcpp-2019-0293_ref_007_w2aab3b7c27b1b6b1ab2b1b7Aa","doi-asserted-by":"crossref","unstructured":"Maheshkumar, K, Dilara, K, Maruthy, KN, Sundareswaren, L. Validation of PC-based sound card with biopac for digitalization of\u00a0ECG recording in short-term HRV analysis. N Am J Med Sci 2016;8:307. https:\/\/doi.org\/10.4103\/1947-2714.187150.","DOI":"10.4103\/1947-2714.187150"},{"key":"2025121209170601447_j_jbcpp-2019-0293_ref_008_w2aab3b7c27b1b6b1ab2b1b8Aa","doi-asserted-by":"crossref","unstructured":"Kimber, J, McLean, BN, Prevett, M, Hammans, SR. Allgrove or 4 \u201cA\u201d syndrome: an autosomal recessive syndrome causing multisystem neurological disease. J Neurol Neurosurg Psychiatry 2003;74:654\u20137. https:\/\/doi.org\/10.1136\/jnnp.74.5.654.","DOI":"10.1136\/jnnp.74.5.654"},{"key":"2025121209170601447_j_jbcpp-2019-0293_ref_009_w2aab3b7c27b1b6b1ab2b1b9Aa","doi-asserted-by":"crossref","unstructured":"Sanyal, D, Bhattacharjee, S. A case of late-onset Allgrove syndrome presenting with predominant autonomic dysfunction. 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