{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T00:50:47Z","timestamp":1776041447417,"version":"3.50.1"},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2026,4,3]],"date-time":"2026-04-03T00:00:00Z","timestamp":1775174400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,4,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Contiguous gene deletion syndromes (CGDSs) can be inherited or the result of microdeletions (eg, resulting from crossing-over errors) in gene-rich chromosome regions. Molecular mechanisms leading to chromosome loss in hotspot areas, such as errors in chromosome crossing-over events, can explain phenotypic presentations in CGDSs. Accurate interpretation of laboratory results in the context of clinical presentation can guide genetic testing that supports a timely diagnosis so that quicker interventions can improve clinical outcomes. Treatment of genetic disorders not only requires timely and accurate treatment, however, but also necessitates management and education of family members who care for the patient. Xp21.3-p21.2 deletion syndrome is a CGDS that has been documented in more than 100 male patients; it presents with primary adrenal insufficiency in the neonatal period.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Here, we report the largest Xp21.3-p21.2 CGDS series to date.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results and Discussion<\/jats:title>\n                    <jats:p>Initial presentation was incorrectly diagnosed as adrenal insufficiency only, despite excessively elevated creatinine kinase and triglycerides, which could have expedited the correct diagnosis of Xp21.3p21.1 CGDS by guiding whole genome or targeted sequencing.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/labmed\/lmag010","type":"journal-article","created":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T12:42:42Z","timestamp":1771936962000},"source":"Crossref","is-referenced-by-count":0,"title":["Whole genome sequencing reveals diagnosis in a 12-month-old child with elevated creatinine kinase, pseudohypertriglyceridemia, and a complex phenotype"],"prefix":"10.1093","volume":"57","author":[{"given":"Jude","family":"Abadie","sequence":"first","affiliation":[{"name":"Department of Pathology, Texas Tech University Health Sciences Center , El Paso, TX,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Flores","sequence":"additional","affiliation":[{"name":"Department of Pediatrics; Section of Medical Genetics, El Paso Children\u2019s Hospital , El Paso, TX,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2026,4,10]]},"reference":[{"key":"2026041220063277800_lmag010-B1","doi-asserted-by":"publisher","first-page":"24","DOI":"10.36185\/2532-1900-246","article-title":"Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: Case report and review literature","volume":"42","author":"Pizza","year":"2023","journal-title":"Acta Myol"},{"key":"2026041220063277800_lmag010-B2","doi-asserted-by":"publisher","first-page":"114","DOI":"10.17116\/jnevro2025125041114","article-title":"Xp21 contiguous gene deletion syndrome","volume":"125","author":"Kalashnikova","year":"2025","journal-title":"Zh Nevrol Psikhiatr Im S S Korsakova"},{"key":"2026041220063277800_lmag010-B3","doi-asserted-by":"publisher","first-page":"483","DOI":"10.1507\/endocrj.EJ25-0265","article-title":"Congenital adrenal hypoplasia with neurodevelopmental delay due to contiguous Xp21 deletion: a case series with review of literature","volume":"73","author":"Gau","year":"2025","journal-title":"Endocr J"},{"key":"2026041220063277800_lmag010-B4","doi-asserted-by":"publisher","first-page":"126","DOI":"10.1186\/s13023-023-02737-y","article-title":"Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita","volume":"18","author":"Zheng","year":"2023","journal-title":"Orphanet J Rare Dis"},{"key":"2026041220063277800_lmag010-B5","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1002\/humu.9269","article-title":"IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1","volume":"24","author":"Zhang","year":"2004","journal-title":"Hum Mutat"},{"key":"2026041220063277800_lmag010-B6","doi-asserted-by":"publisher","first-page":"11795514251317419","DOI":"10.1177\/11795514251317419","article-title":"Genetic and clinical characterization of complex glycerol kinase deficiency in two male siblings: a case report","volume":"18","author":"Bregvadze","year":"2025","journal-title":"Clin Med Insights Endocrinol Diabetes"},{"key":"2026041220063277800_lmag010-B7","doi-asserted-by":"publisher","first-page":"118","DOI":"10.1186\/s12902-021-00785-8","article-title":"X-linked congenital adrenal hypoplasia: a case presentation","volume":"21","author":"Ouyang","year":"2021","journal-title":"BMC Endocr Disord"},{"key":"2026041220063277800_lmag010-B8","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1016\/j.ejmg.2011.08.004","article-title":"IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features","volume":"55","author":"Youngs","year":"2012","journal-title":"Eur J Med Genet"},{"key":"2026041220063277800_lmag010-B9","doi-asserted-by":"publisher","first-page":"104397","DOI":"10.1016\/j.braindev.2025.104397","article-title":"Duchenne muscular dystrophy: evolving therapeutic strategies and multidimensional evaluation approaches","volume":"47","author":"Komaki","year":"2025","journal-title":"Brain Dev"},{"key":"2026041220063277800_lmag010-B10","doi-asserted-by":"publisher","first-page":"4609317","DOI":"10.1155\/2020\/4609317","article-title":"Pseudohypertriglyceridemia: a novel case with important clinical implications","volume":"2020","author":"Rughani","year":"2020","journal-title":"Case Rep Pediatr"}],"container-title":["Laboratory Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/labmed\/article-pdf\/57\/3\/lmag010\/68024685\/lmag010.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/labmed\/article-pdf\/57\/3\/lmag010\/68024685\/lmag010.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T00:06:40Z","timestamp":1776038800000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/labmed\/article\/doi\/10.1093\/labmed\/lmag010\/8651097"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,3]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,4,3]]}},"URL":"https:\/\/doi.org\/10.1093\/labmed\/lmag010","relation":{},"ISSN":["0007-5027","1943-7730"],"issn-type":[{"value":"0007-5027","type":"print"},{"value":"1943-7730","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026,5]]},"published":{"date-parts":[[2026,4,3]]},"article-number":"lmag010"}}