{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T15:43:56Z","timestamp":1791215036487,"version":"4.1.0"},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,7,22]],"date-time":"2020-07-22T00:00:00Z","timestamp":1595376000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,7,22]],"date-time":"2020-07-22T00:00:00Z","timestamp":1595376000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hormones"],"published-print":{"date-parts":[[2021,3]]},"DOI":"10.1007\/s42000-020-00217-7","type":"journal-article","created":{"date-parts":[[2020,7,22]],"date-time":"2020-07-22T19:03:38Z","timestamp":1595444618000},"page":"197-205","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy"],"prefix":"10.1007","volume":"20","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1548-6413","authenticated-orcid":false,"given":"Satyam Singh","family":"Jayant","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2400-8739","authenticated-orcid":false,"given":"Rahul","family":"Gupta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5819-1546","authenticated-orcid":false,"given":"Kanhaiya","family":"Agrawal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9701-9554","authenticated-orcid":false,"given":"Liza","family":"Das","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5415-1611","authenticated-orcid":false,"given":"Pinaki","family":"Dutta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3621-4337","authenticated-orcid":false,"given":"Anil","family":"Bhansali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,7,22]]},"reference":[{"issue":"8077","key":"217_CR1","doi-asserted-by":"publisher","first-page":"1284","DOI":"10.1016\/S0140-6736(78)91268-0","volume":"311","author":"J Allgrove","year":"1978","unstructured":"Allgrove J, Clayden GS, Grant DB, Macaulay JC (1978) Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet. 311(8077):1284\u20131286","journal-title":"Lancet."},{"issue":"8","key":"217_CR2","doi-asserted-by":"publisher","first-page":"901","DOI":"10.1530\/EC-17-0255","volume":"6","author":"H Patt","year":"2017","unstructured":"Patt H, Koehler K, Lodha S, Jadhav S, Yerawar C, Huebner A, Thakkar K, Arya S, Nair S, Goroshi M, Ganesh H (2017) Phenotype\u2013genotype spectrum of AAA syndrome from Western India and systematic review of literature. Endocr Connect 6(8):901\u2013913","journal-title":"Endocr Connect"},{"issue":"1","key":"217_CR3","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1007\/BF01972967","volume":"154","author":"M Gazarian","year":"1995","unstructured":"Gazarian M, Cowell CT, Bonney M, Grigor WG (1995) The \u201c4A\u201d syndrome: adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities. Eur J Paediatr Dent 154(1):18\u201323","journal-title":"Eur J Paediatr Dent"},{"issue":"6","key":"217_CR4","doi-asserted-by":"publisher","first-page":"962","DOI":"10.1212\/WNL.58.6.962","volume":"58","author":"C Goizet","year":"2002","unstructured":"Goizet C, Catargi B, Tison F, Tullio-Pelet A, Hadj-Rabia S, Pujol F, Lagueny A, Lyonnet S, Lacombe D (2002) Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation. Neurology. 58(6):962\u2013965","journal-title":"Neurology."},{"issue":"1","key":"217_CR5","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1007\/s00415-011-6115-9","volume":"259","author":"AE Vallet","year":"2012","unstructured":"Vallet AE, Verschueren A, Petiot P, Vandenberghe N, Nicolino M, Roman S, Pouget J, Vial C (2012) Neurological features in adult Triple-A (Allgrove) syndrome. J Neurol 259(1):39\u201346","journal-title":"J Neurol"},{"issue":"3","key":"217_CR6","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1038\/81642","volume":"26","author":"A Tullio-Pelet","year":"2000","unstructured":"Tullio-Pelet A, Salomon R, Hadj-Rabia S, Mugnier C, de Laet MH, Chaouachi B, Bakiri F, Brottier P, Cattolico L, Penet C, B\u00e9geot M (2000) Mutant WD-repeat protein in triple-A syndrome. Nat Genet 26(3):332\u2013335","journal-title":"Nat Genet"},{"issue":"10","key":"217_CR7","doi-asserted-by":"publisher","first-page":"5823","DOI":"10.1073\/pnas.1031047100","volume":"100","author":"JM Cronshaw","year":"2003","unstructured":"Cronshaw JM, Matunis MJ (2003) The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome. Proc Natl Acad Sci U S A 100(10):5823\u20135827","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"7","key":"217_CR8","doi-asserted-by":"publisher","first-page":"2298","DOI":"10.1073\/pnas.0505598103","volume":"103","author":"M Hirano","year":"2006","unstructured":"Hirano M, Furiya Y, Asai H, Yasui A, Ueno S (2006) ALADINI482S causes selective failure of nuclear protein import and hypersensitivity to oxidative stress in triple A syndrome. Proc Natl Acad Sci U S A 103(7):2298\u20132303","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"19","key":"217_CR9","doi-asserted-by":"publisher","first-page":"3424","DOI":"10.1091\/mbc.E15-02-0113","volume":"26","author":"S Carvalhal","year":"2015","unstructured":"Carvalhal S, Ribeiro SA, Arocena M, Kasciukovic T, Temme A, Koehler K, Huebner A, Griffis ER (2015) The nucleoporin ALADIN regulates Aurora A localization to ensure robust mitotic spindle formation. Mol Biol Cell 26(19):3424\u20133438","journal-title":"Mol Biol Cell"},{"issue":"11","key":"217_CR10","doi-asserted-by":"publisher","first-page":"1323","DOI":"10.1007\/s00431-010-1222-7","volume":"169","author":"T Milenkovic","year":"2010","unstructured":"Milenkovic T, Zdravkovic D, Savic N, Todorovic S, Mitrovic K, Koehler K, Huebner A (2010) Triple A syndrome: 32 years experience of a single centre (1977\u20132008). Eur J Paediatr Dent 169(11):1323\u20131328","journal-title":"Eur J Paediatr Dent"},{"key":"217_CR11","unstructured":"Clark A, Hughes C, Metherell L (2009) ACTH insensitivity syndromes. In11th European Congress of Endocrinology (Vol. 20). BioScientifica"},{"issue":"5","key":"217_CR12","doi-asserted-by":"publisher","first-page":"654","DOI":"10.1136\/jnnp.74.5.654","volume":"74","author":"J Kimber","year":"2003","unstructured":"Kimber J, McLean BN, Prevett M, Hammans SR (2003) Allgrove or 4 \u201cA\u201d syndrome: an autosomal recessive syndrome causing multisystem neurological disease. J Neurol Neurosurg Psychiatry 74(5):654\u2013657","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"1-2","key":"217_CR13","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1016\/j.jns.2013.10.003","volume":"336","author":"VY Vishnu","year":"2014","unstructured":"Vishnu VY, Modi M, Prabhakar S, Bhansali A, Goyal MK (2014) \u201cA\u201d motor neuron disease. J Neurol Sci 336(1-2):251\u2013253","journal-title":"J Neurol Sci"},{"key":"217_CR14","doi-asserted-by":"crossref","unstructured":"de Freitas MR, Orsini M, Ara\u00fajo AP, Abra\u00e3o LJ Jr, Barbosa GM, Fran\u00e7a MC, Correia L, Bastos VH, Trajano E, da Sant\u2019Anna Jr M (2018) Allgrove syndrome and motor neuron disease. Neurol Int 10(2)","DOI":"10.4081\/ni.2018.7436"},{"issue":"4","key":"217_CR15","doi-asserted-by":"publisher","first-page":"1277","DOI":"10.3892\/etm.2015.2677","volume":"10","author":"W Li","year":"2015","unstructured":"Li W, Gong C, Qi Z, Wu DI, Cao B (2015) Identification of AAAS gene mutation in Allgrove syndrome: a report of three cases. Exp Ther Med 10(4):1277\u20131282","journal-title":"Exp Ther Med"},{"issue":"2","key":"217_CR16","doi-asserted-by":"publisher","first-page":"292","DOI":"10.1002\/1097-4598(200102)24:2<292::AID-MUS160>3.0.CO;2-X","volume":"24","author":"C Bentes","year":"2001","unstructured":"Bentes C, Santos-Bento M, de S\u00e1 J (2001) de Lurdes Sales Lu\u00eds M, de Carvalho M. Allgrove syndrome in adulthood. Muscle Nerve 24(2):292\u2013296","journal-title":"Muscle Nerve"},{"issue":"12","key":"217_CR17","doi-asserted-by":"publisher","first-page":"2681","DOI":"10.1093\/brain\/awf270","volume":"125","author":"H Houlden","year":"2002","unstructured":"Houlden H, Smith S, de Carvalho M, Blake J, Mathias C, Wood NW, Reilly MM (2002) Clinical and genetic characterization of families with triple A (Allgrove) syndrome. Brain. 125(12):2681\u20132690","journal-title":"Brain."},{"issue":"2","key":"217_CR18","first-page":"191","volume":"17","author":"L Lovreci\u0107","year":"2006","unstructured":"Lovreci\u0107 L, Pelet A, Peterlin B (2006) Heterogeneity of the triple A syndrome and assessment of a case. Genet Couns (Geneva, Switzerland) 17(2):191\u2013195","journal-title":"Genet Couns (Geneva, Switzerland)"},{"issue":"1","key":"217_CR19","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1186\/1824-7288-39-39","volume":"39","author":"C Bizzarri","year":"2013","unstructured":"Bizzarri C, Benevento D, Terzi C, Huebner A, Cappa M (2013) Triple A (Allgrove) syndrome: an unusual association with syringomyelia. Ital J Paediatr 39(1):39","journal-title":"Ital J Paediatr"},{"issue":"2","key":"217_CR20","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1016\/j.anpedi.2012.06.009","volume":"78","author":"M Capataz Ledesma","year":"2013","unstructured":"Capataz Ledesma M, M\u00e9ndez P\u00e9rez P, Rodr\u00edguez L\u00f3pez R, Gal\u00e1n GE (2013) S\u00edndrome de Allgrove (triple A). Hallazgo de una mutaci\u00f3n no descrita en el gen AAAS. Anales de Pediatr\u00eda 78(2):109\u2013112","journal-title":"Anales de Pediatr\u00eda"},{"issue":"1-2","key":"217_CR21","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1016\/j.jns.2010.07.006","volume":"297","author":"K Nakamura","year":"2010","unstructured":"Nakamura K, Yoshida K, Yoshinaga T, Kodaira M, Shimojima Y, Takei YI, Morita H, Kayanuma K, Ikeda SI (2010) Adult or late-onset triple A syndrome: case report and literature review. J Neurol Sci 297(1-2):85\u201388","journal-title":"J Neurol Sci"},{"issue":"3","key":"217_CR22","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1002\/mus.23770","volume":"48","author":"M Ikeda","year":"2013","unstructured":"Ikeda M, Hirano M, Shinoda K, Katsumata N, Furutama D, Nakamura K, Ikeda SI, Tanaka T, Hanafusa T, Kitajima H, Kohno H (2013) Triple A syndrome in Japan. Muscle Nerve 48(3):381\u2013386","journal-title":"Muscle Nerve"},{"issue":"4","key":"217_CR23","doi-asserted-by":"publisher","first-page":"1277","DOI":"10.3892\/etm.2015.2677","volume":"10","author":"W Li","year":"2015","unstructured":"Li W, Gong C, Qi Z, Wu DI, Cao B (2015) Identification of AAAS gene mutation in Allgrove syndrome: a report of three cases. Exp Ther Med 10(4):1277\u20131282","journal-title":"Exp Ther Med"},{"issue":"4","key":"217_CR24","doi-asserted-by":"publisher","first-page":"604","DOI":"10.3803\/EnM.2015.30.4.604","volume":"30","author":"RA Misgar","year":"2015","unstructured":"Misgar RA, Pala NA, Ramzan M, Wani AI, Bashir MI, Laway BA (2015) Allgrove (Triple A) syndrome: a case report from the Kashmir Valley. Endocrinol Metab 30(4):604\u2013606","journal-title":"Endocrinol Metab"},{"issue":"5","key":"217_CR25","doi-asserted-by":"publisher","first-page":"337","DOI":"10.1093\/jnen\/nlx016","volume":"76","author":"J Reimann","year":"2017","unstructured":"Reimann J, Kohlschmidt N, Tolksdorf K, Weis J, Kuchelmeister K, Roos A (2017) Muscle pathology as a diagnostic clue to allgrove syndrome. J Neuropathol Exp Neurol 76(5):337\u2013341","journal-title":"J Neuropathol Exp Neurol"},{"issue":"3","key":"217_CR26","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1136\/jmedgenet-2016-104108","volume":"54","author":"K Koehler","year":"2017","unstructured":"Koehler K, Milev MP, Prematilake K, Reschke F, Kutzner S, J\u00fchlen R et al (2017) A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima. J Med Genet 54(3):176\u2013185","journal-title":"J Med Genet"}],"container-title":["Hormones"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s42000-020-00217-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s42000-020-00217-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s42000-020-00217-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,7,21]],"date-time":"2021-07-21T23:05:54Z","timestamp":1626908754000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s42000-020-00217-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7,22]]},"references-count":26,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,3]]}},"alternative-id":["217"],"URL":"https:\/\/doi.org\/10.1007\/s42000-020-00217-7","relation":{},"ISSN":["1109-3099","2520-8721"],"issn-type":[{"value":"1109-3099","type":"print"},{"value":"2520-8721","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,7,22]]},"assertion":[{"value":"27 April 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 May 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 July 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The research was conducted ethically in accordance with the Declaration of Helsinki.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Statement of ethics"}},{"value":"The authors declare that they have no conflicts of interest to declare.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"Written informed consent was obtained from the patient for publication.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}}]}}