{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T16:11:36Z","timestamp":1778256696160,"version":"3.51.4"},"reference-count":13,"publisher":"The Endocrine Society","issue":"6","license":[{"start":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T00:00:00Z","timestamp":1778198400000},"content-version":"vor","delay-in-days":9,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,4,29]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>X-linked adrenoleukodystrophy (X-ALD) is a rare neurodegenerative demyelinating disorder with variable presentations. We report a case of a 32-year-old African American male with adult-onset X-ALD presenting with primary adrenal insufficiency (PAI) and marfanoid musculoskeletal features. He was initially diagnosed with PAI of unclear etiology and taking only hydrocortisone monotherapy. Further workup revealed negative 21-alpha-hydroxylase antibodies and elevated plasma very long chain fatty acids. Genetic testing confirmed the diagnosis of X-ALD resulting from novel ATP-binding cassette transports sub-family D member 1 gene (ABCD1) pathogenic variant. Evaluations for comorbidities by ophthalmology, neurology, and neuropsychiatry were insignificant. Magnetic resonance imaging of the brain and entire spine was unremarkable. There were no cardiac or eye findings to suggest Marfan syndrome and no genetic testing for Marfan syndrome was pursued. This case highlights X-ALD as a potential diagnosis of PAI and the importance of screening plasma very long chain fatty acid levels after ruling out common etiologies.<\/jats:p>","DOI":"10.1210\/jcemcr\/luag124","type":"journal-article","created":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T11:49:05Z","timestamp":1775735345000},"source":"Crossref","is-referenced-by-count":0,"title":["Primary adrenal insufficiency resulting in diagnosis of rare\n                    <i>ABCD1<\/i>\n                    pathogenic variant in X-linked adrenoleukodystrophy"],"prefix":"10.1210","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-6512-8461","authenticated-orcid":false,"given":"Alison","family":"Jin","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, UT Southwestern Medical Center , Dallas, TX 75390 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anupriya","family":"Bhatnagar","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, VA North Texas Health Care System , Dallas, TX 75216 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ananda","family":"Bryant","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, VA North Texas Health Care System , Dallas, TX 75216 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyaw","family":"Soe","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, UT Southwestern Medical Center , Dallas, TX 75390 ,","place":["USA"]},{"name":"Division of Endocrinology, VA North Texas Health Care System , Dallas, TX 75216 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2026,5,8]]},"reference":[{"key":"2026050811394498500_luag124-B1","first-page":"1309053","article-title":"X-linked adrenoleukodystrophy and primary adrenal insufficiency","volume":"14","author":"Cappa","year":"2023","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"8","key":"2026050811394498500_luag124-B2","first-page":"1485","article-title":"Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy","volume":"120","author":"Moser","year":"1997","journal-title":"Brain"},{"issue":"4","key":"2026050811394498500_luag124-B3","first-page":"395","article-title":"Genetic forms of adrenal insufficiency","volume":"21","author":"Brett","year":"2015","journal-title":"Endocr Pract"},{"key":"2026050811394498500_luag124-B4","first-page":"20-0125","article-title":"ABCD1 gene mutation in an Italian family with X-linkedadrenoleukodystrophy: case series","volume":"2021","author":"Mohn","year":"2021","journal-title":"Endocrinol Diabetes Metab Case Rep"},{"issue":"4","key":"2026050811394498500_luag124-B5","first-page":"107734","article-title":"Newborn screening for X-linked adrenoleukodystrophy","volume":"2","author":"Moser","year":"2016","journal-title":"Int J Neonatal Screen"},{"issue":"2","key":"2026050811394498500_luag124-B6","first-page":"212","article-title":"Adrenoleukodystrophy in the differential diagnosis of boys presenting with primary adrenal insufficiency without adrenal antibodies","volume":"13","author":"Ryalls","year":"2021","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"2026050811394498500_luag124-B7"},{"issue":"1","key":"2026050811394498500_luag124-B8","first-page":"118","article-title":"The natural history of adrenal insufficiency in X-linked adrenoleukodystrophy: an international collaboration","volume":"104","author":"Huffnagel","year":"2019","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"2026050811394498500_luag124-B9","first-page":"51","article-title":"X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management","volume":"7","author":"Engelen","year":"2012","journal-title":"Orphanet J Rare Dis"},{"issue":"5","key":"2026050811394498500_luag124-B10","first-page":"406","article-title":"Adreno-leukodystrophy. Similar ultrastructural changes in adrenal cortical and Schwann cells","volume":"30","author":"Powers","year":"1974","journal-title":"Arch Neurol"},{"issue":"3","key":"2026050811394498500_luag124-B11","first-page":"481","article-title":"Adreno-leukodystrophy (sex-linked Schilder's disease). A pathogenetic hypothesis based on ultrastructural lesions in adrenal cortex, peripheral nerve and testis","volume":"76","author":"Powers","year":"1974","journal-title":"Am J Pathol"},{"issue":"1","key":"2026050811394498500_luag124-B12","first-page":"121","article-title":"Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation","volume":"19","author":"Kemper","year":"2017","journal-title":"Genet Med"},{"issue":"11","key":"2026050811394498500_luag124-B13","first-page":"4324","article-title":"Adrenoleukodystrophy: guidance for adrenal surveillance in males identified by newborn screen","volume":"103","author":"Regelmann","year":"2018","journal-title":"J Clin Endocrinol Metab"}],"container-title":["JCEM Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/4\/6\/luag124\/68250834\/luag124.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/4\/6\/luag124\/68250834\/luag124.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T15:39:51Z","timestamp":1778254791000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcemcr\/article\/doi\/10.1210\/jcemcr\/luag124\/8673058"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,29]]},"references-count":13,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2026,4,29]]}},"URL":"https:\/\/doi.org\/10.1210\/jcemcr\/luag124","relation":{},"ISSN":["2755-1520"],"issn-type":[{"value":"2755-1520","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026,6]]},"published":{"date-parts":[[2026,4,29]]},"article-number":"luag124"}}