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This study is the first to report central precocious puberty (CPP) in individuals with X-ALD. A 6-year-old boy exhibited mucocutaneous pigmentation, increased plasma adrenocorticotropic hormone levels, and elevated very long-chain fatty acids (VLCFA). We identified a variant, c.1826A&gt;G (p. Glu609Gly), in exon 8 of the ABCD1 gene in the proband. Additionally, he displayed rapid growth, testicular volume of 5\u20136\u2009mL, the onset of pubic hair, and pubertal levels of luteinizing hormone (LH), all meeting the diagnostic criteria for CPP.<\/jats:p>","DOI":"10.1007\/s12020-023-03562-w","type":"journal-article","created":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T15:01:48Z","timestamp":1697468508000},"page":"353-356","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A patient with X-linked adrenoleukodystrophy presenting with central precocious puberty: a case report"],"prefix":"10.1007","volume":"83","author":[{"given":"Ting Ting","family":"Zhu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao Mei","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,10,16]]},"reference":[{"issue":"6","key":"3562_CR1","first-page":"1135","volume":"58","author":"V Feigenbaum","year":"1996","unstructured":"V. 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Paediatr."},{"issue":"6","key":"3562_CR9","first-page":"357","volume":"91","author":"M Nascimento","year":"2012","unstructured":"M. Nascimento, et al. Adrenoleukodystrophy: a forgotten diagnosis in children with primary Addisonas disease. BMJ. Case. Rep. 91(6), 357\u2013372 (2012).","journal-title":"BMJ. Case. Rep."},{"issue":"4","key":"3562_CR10","doi-asserted-by":"publisher","first-page":"512","DOI":"10.1002\/ana.101","volume":"49","author":"L Bezman","year":"2001","unstructured":"L. Bezman et al. Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. Ann. Neurol. 49(4), 512\u2013517 (2001)","journal-title":"Ann. Neurol."},{"issue":"3","key":"3562_CR11","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1136\/adc.86.3.185","volume":"86","author":"MD Ronghe","year":"2002","unstructured":"M.D. Ronghe et al. The importance of testing for adrenoleucodystrophy in males with idiopathic Addison\u2019s disease. Arch. Dis. 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A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}}]}}