{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T03:37:59Z","timestamp":1791430679909,"version":"4.3.3"},"reference-count":27,"publisher":"The Endocrine Society","issue":"11","license":[{"start":{"date-parts":[[2023,5,23]],"date-time":"2023-05-23T00:00:00Z","timestamp":1684800000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,10,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>Males with adrenoleukodystrophy (ALD) have an 80% lifetime risk of developing adrenal insufficiency (AI), which can be life-threatening when undetected. Newborn screening (NBS) for ALD has been implemented in 29 states, yet the impact of NBS upon clinical management has not been reported.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To investigate whether the implementation of NBS has altered the time to diagnosis of AI in children with ALD.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>We conducted a retrospective medical chart review of pediatric patients with ALD.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Setting<\/jats:title>\n                    <jats:p>All patients were seen in a leukodystrophy clinic in an academic medical center.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients<\/jats:title>\n                    <jats:p>We included all pediatric patients with ALD who were seen between May 2006 and January 2022. We identified 116 patients (94% boys).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Main Outcome Measures<\/jats:title>\n                    <jats:p>We extracted information about ALD diagnosis in all patients and AI surveillance, diagnosis, and treatment in boys with ALD.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Thirty-one (27%) patients were diagnosed with ALD by NBS, and 85 (73%) were diagnosed outside the newborn period. The prevalence of AI among boys in our patient population was 74%. AI diagnosis was made significantly earlier in boys diagnosed with ALD by NBS than in boys diagnosed outside the newborn period (median [IQR] age of diagnosis = 6.7 [3.9, 12.12] months vs 6.05 [3.74, 8.35] years) (P &amp;lt; .001). When maintenance dose of glucocorticoids were initiated, there were significant differences in ACTH and peak cortisol levels in patients diagnosed by NBS and outside the newborn period.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Our results suggest that implementing NBS for ALD leads to significantly earlier detection of AI and earlier initiation of glucocorticoid supplementation in boys affected by ALD.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/clinem\/dgad286","type":"journal-article","created":{"date-parts":[[2023,5,23]],"date-time":"2023-05-23T13:16:18Z","timestamp":1684847778000},"page":"e1306-e1315","source":"Crossref","is-referenced-by-count":11,"title":["Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy"],"prefix":"10.1210","volume":"108","author":[{"given":"Jonanlis","family":"Ramirez Alcantara","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology, Massachusetts General Hospital , Boston, MA 02114 , USA"},{"name":"Harvard Medical School , Boston, MA 02114 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2753-7134","authenticated-orcid":false,"given":"Natalie R","family":"Grant","sequence":"additional","affiliation":[{"name":"Department of Neurology, Massachusetts General Hospital , Boston, MA 02114 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Swathi","family":"Sethuram","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Massachusetts General Hospital , Boston, MA 02114 , USA"},{"name":"Harvard Medical School , Boston, MA 02114 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda","family":"Nagy","sequence":"additional","affiliation":[{"name":"Harvard Medical School , Boston, MA 02114 , 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