{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T21:13:58Z","timestamp":1740172438028,"version":"3.37.3"},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,11,8]],"date-time":"2022-11-08T00:00:00Z","timestamp":1667865600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2022,11,8]],"date-time":"2022-11-08T00:00:00Z","timestamp":1667865600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hormones"],"published-print":{"date-parts":[[2023,3]]},"DOI":"10.1007\/s42000-022-00415-5","type":"journal-article","created":{"date-parts":[[2022,11,8]],"date-time":"2022-11-08T19:04:33Z","timestamp":1667934273000},"page":"143-148","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Addison\u2019s disease without hyperpigmentation in pediatrics: pointing towards specific causes"],"prefix":"10.1007","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9730-5027","authenticated-orcid":false,"given":"Aristeidis","family":"Giannakopoulos","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amalia","family":"Sertedaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra","family":"Efthymiadou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dionisios","family":"Chrysis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,11,8]]},"reference":[{"key":"415_CR1","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1111\/j.1749-6632.2010.05928.x","volume":"1220","author":"RM Dores","year":"2011","unstructured":"Dores RM, Baron AJ (2011) Evolution of POMC: origin, phylogeny, posttranslational processing, and the melanocortins. Ann N Y Acad Sci 1220:34\u201348. https:\/\/doi.org\/10.1111\/j.1749-6632.2010.05928.x","journal-title":"Ann N Y Acad Sci"},{"key":"415_CR2","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1038\/ng1195-328","volume":"11","author":"P Valverde","year":"1995","unstructured":"Valverde P, Healy E, Jackson I, Rees JL, Thody AJ (1995) Variants of the melanocyte\u2013stimulating hormone receptor gene are associated with red hair and fair skin in humans. Nat Genet 11:328\u2013330. https:\/\/doi.org\/10.1038\/ng1195-328","journal-title":"Nat Genet"},{"key":"415_CR3","doi-asserted-by":"publisher","first-page":"2531","DOI":"10.1093\/hmg\/9.17.2531","volume":"9","author":"N Flanagan","year":"2000","unstructured":"Flanagan N, Healy E, Ray A, Philips S, Todd C, Jackson IJ, Birch-Machin MA, Rees JL (2000) Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation. Hum Mol Genet 9:2531\u20132537. https:\/\/doi.org\/10.1093\/hmg\/9.17.2531","journal-title":"Hum Mol Genet"},{"key":"415_CR4","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1007\/bf03343579","volume":"22","author":"A Kendere\u0161ki","year":"1999","unstructured":"Kendere\u0161ki A, Mici\u0107 D, \u0160umarac M, Zori\u0107 S, Dj M, \u010coli\u0107 M, \u0160karo-Mili\u0107 A, Bogdanovi\u0107 Z, (1999) White Addison\u2019s disease: what is the possible cause? J Endocr Invest 22:395\u2013400. https:\/\/doi.org\/10.1007\/bf03343579","journal-title":"J Endocr Invest"},{"key":"415_CR5","doi-asserted-by":"publisher","first-page":"912","DOI":"10.1172\/jci89626","volume":"127","author":"S Lovric","year":"2017","unstructured":"Lovric S, Goncalves S, Gee HY, Oskouian B, Srinivas H, Choi W-I, Shril S, Ashraf S, Tan W, Rao J, Airik M, Schapiro D, Braun DA, Sadowski CE, Widmeier E, Jobst-Schwan T, Schmidt JM, Girik V, Capitani G, Suh JH, Lachauss\u00e9e N, Arrondel C, Patat J, Gribouval O, Furlano M, Boyer O, Schmitt A, Vuiblet V, Hashmi S, Wilcken R, Bernier FP, Innes AM, Parboosingh JS, Lamont RE, Midgley JP, Wright N, Majewski J, Zenker M, Schaefer F, Kuss N, Greil J, Giese T, Schwarz K, Catheline V, Schanze D, Franke I, Sznajer Y, Truant AS, Adams B, D\u00e9sir J, Biemann R, Pei Y, Ars E, Lloberas N, Madrid A, Dharnidharka VR, Connolly AM, Willing MC, Cooper MA, Lifton RP, Simons M, Riezman H, Antignac C, Saba JD, Hildebrandt F (2017) Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency. J Clin Invest 127:912\u2013928. https:\/\/doi.org\/10.1172\/jci89626","journal-title":"J Clin Invest"},{"key":"415_CR6","doi-asserted-by":"publisher","first-page":"942","DOI":"10.1172\/jci90171","volume":"127","author":"R Prasad","year":"2017","unstructured":"Prasad R, Hadjidemetriou I, Maharaj A, Meimaridou E, Buonocore F, Saleem M, Hurcombe J, Bierzynska A, Barbagelata E, Bergad\u00e1 I, Cassinelli H, Das U, Krone R, Hacihamdioglu B, Sari E, Yesilkaya E, Storr HL, Clemente M, Fernandez-Cancio M, Camats N, Ram N, Achermann JC, Veldhoven PPV, Guasti L, Braslavsky D, Guran T, Metherell LA (2017) Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome. J Clin Invest 127:942\u2013953. https:\/\/doi.org\/10.1172\/jci90171","journal-title":"J Clin Invest"},{"key":"415_CR7","doi-asserted-by":"publisher","first-page":"480","DOI":"10.1016\/j.braindev.2018.02.008","volume":"40","author":"D Bamborschke","year":"2018","unstructured":"Bamborschke D, Pergande M, Becker K, Koerber F, D\u00f6tsch J, Vierzig A, Weber LT, Cirak S (2018) A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation. Brain Dev 40:480\u2013483. https:\/\/doi.org\/10.1016\/j.braindev.2018.02.008","journal-title":"Brain Dev"},{"key":"415_CR8","doi-asserted-by":"publisher","first-page":"105730","DOI":"10.1016\/j.jsbmb.2020.105730","volume":"202","author":"A Maharaj","year":"2020","unstructured":"Maharaj A, Williams J, Bradshaw T, G\u00fcran T, Braslavsky D, Casas J, Chan LF, Metherell LA, Prasad R (2020) Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction. J Steroid Biochem Mol Biol 202:105730. https:\/\/doi.org\/10.1016\/j.jsbmb.2020.105730","journal-title":"J Steroid Biochem Mol Biol"},{"key":"415_CR9","doi-asserted-by":"publisher","first-page":"1699","DOI":"10.1242\/jcs.00366","volume":"116","author":"D-S Kim","year":"2003","unstructured":"Kim D-S, Hwang E-S, Lee J-E, Kim S-Y, Kwon S-B, Park K-C (2003) Sphingosine-1-phosphate decreases melanin synthesis via sustained ERK activation and subsequent MITF degradation. J Cell Sci 116:1699\u20131706. https:\/\/doi.org\/10.1242\/jcs.00366","journal-title":"J Cell Sci"},{"key":"415_CR10","doi-asserted-by":"publisher","first-page":"7996","DOI":"10.1128\/mcb.14.12.7996-8006.1994","volume":"14","author":"NJ Bentley","year":"1994","unstructured":"Bentley NJ, Eisen T, Goding CR (1994) Melanocyte-specific expression of the human tyrosinase promoter: activation by the microphthalmia gene product and role of the initiator. Mol Cell Biol 14:7996\u20138006. https:\/\/doi.org\/10.1128\/mcb.14.12.7996-8006.1994","journal-title":"Mol Cell Biol"},{"key":"415_CR11","doi-asserted-by":"publisher","first-page":"230","DOI":"10.1034\/j.1600-0749.2000.130404.x","volume":"13","author":"TACHIBANA M,","year":"2000","unstructured":"TACHIBANA M, (2000) MITF: a stream flowing for pigment cells. Pigment Cell Res 13:230\u2013240. https:\/\/doi.org\/10.1034\/j.1600-0749.2000.130404.x","journal-title":"Pigment Cell Res"},{"key":"415_CR12","doi-asserted-by":"publisher","first-page":"1484","DOI":"10.1210\/jc.2018-02238","volume":"104","author":"N Settas","year":"2019","unstructured":"Settas N, Persky R, Faucz FR, Sheanon N, Voutetakis A, Lodish M, Metherell LA, Stratakis CA (2019) SGPL1 deficiency: a rare cause of primary adrenal insufficiency. J Clin Endocrinol Metab 104:1484\u20131490. https:\/\/doi.org\/10.1210\/jc.2018-02238","journal-title":"J Clin Endocrinol Metab"},{"key":"415_CR13","doi-asserted-by":"publisher","first-page":"E771","DOI":"10.1210\/jc.2011-2414","volume":"97","author":"S Turan","year":"2012","unstructured":"Turan S, Hughes C, Atay Z, Guran T, Haliloglu B, Clark AJL, Bereket A, Metherell LA (2012) An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W). J Clin Endocrinol Metab 97:E771\u2013E774. https:\/\/doi.org\/10.1210\/jc.2011-2414","journal-title":"J Clin Endocrinol Metab"},{"key":"415_CR14","doi-asserted-by":"publisher","first-page":"736","DOI":"10.1210\/jc.2012-3199","volume":"98","author":"ME Samuels","year":"2013","unstructured":"Samuels ME, Gallo-Payet N, Pinard S, Hasselmann C, Magne F, Patry L, Chouinard L, Schwartzentruber J, Ren\u00e9 P, Sawyer N, Bouvier M, Djemli A, Delvin E, Huot C, Eugene D, Deal CL, Van Vliet G, Majewski J, Delado\u00eby J (2013) Bioinactive ACTH causing glucocorticoid deficiency. J Clin Endocrinol Metab 98:736\u2013742. https:\/\/doi.org\/10.1210\/jc.2012-3199","journal-title":"J Clin Endocrinol Metab"},{"key":"415_CR15","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1056\/nejm196208022670501","volume":"267","author":"RE Fellows","year":"1962","unstructured":"Fellows RE, Buchanan JR, Peterson RE, Stokes PE (1962) Chronic primary adrenal insufficiency without hyperpigmentation. N Engl J Med 267:215\u2013218. https:\/\/doi.org\/10.1056\/nejm196208022670501","journal-title":"N Engl J Med"},{"key":"415_CR16","doi-asserted-by":"publisher","first-page":"690","DOI":"10.1136\/pgmj.58.685.690","volume":"58","author":"AH Barnett","year":"1982","unstructured":"Barnett AH, Espiner EA, Donald RA (1982) Patients presenting with Addison\u2019s disease need not be pigmented. Postgrad Med J 58:690. https:\/\/doi.org\/10.1136\/pgmj.58.685.690","journal-title":"Postgrad Med J"},{"key":"415_CR17","doi-asserted-by":"publisher","unstructured":"Giannakopoulos A, Efthymiadou A, Chrysanthakopoulou A, Chrysis D (2022) Hypoglycemia-associated autonomic failure in type 1 diabetes: beyond hypoglycemia unawareness. Clin Diabetes\u00a040(2):250\u2013252. https:\/\/doi.org\/10.2337\/cd21-0100","DOI":"10.2337\/cd21-0100"}],"container-title":["Hormones"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s42000-022-00415-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s42000-022-00415-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s42000-022-00415-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,3,14]],"date-time":"2023-03-14T03:33:23Z","timestamp":1678764803000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s42000-022-00415-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,8]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2023,3]]}},"alternative-id":["415"],"URL":"https:\/\/doi.org\/10.1007\/s42000-022-00415-5","relation":{},"ISSN":["1109-3099","2520-8721"],"issn-type":[{"type":"print","value":"1109-3099"},{"type":"electronic","value":"2520-8721"}],"subject":[],"published":{"date-parts":[[2022,11,8]]},"assertion":[{"value":"10 May 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 October 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 November 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Informed consent was obtained from all individual participants included in the study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}