{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T09:11:52Z","timestamp":1780650712435,"version":"3.54.1"},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T00:00:00Z","timestamp":1780617600000},"content-version":"vor","delay-in-days":155,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Endocrinology"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    Congenital adrenal hyperplasia (CAH) due to 21\u2010hydroxylase deficiency (21\u2010OHD CAH) is an autosomal recessive genetic condition that results from pathogenic variants in the\n                    <jats:italic>CYP21A2<\/jats:italic>\n                    gene. Noncarrier parents are found in a small percentage of cases, typically due to de novo variants. However, uniparental disomy (UPD) should also be considered. UPD is generally suspected when an individual with an autosomal recessive condition is found to be homozygous for a rare pathogenic variant and consanguinity has been ruled out. However, UPD in\n                    <jats:italic>CYP21A2<\/jats:italic>\n                    may be hard to recognize because homozygous genotypes are not uncommon. We present the case of a 19\u2010month\u2010old male born preterm who presented to pediatric endocrinology after a positive newborn screen for CAH. He was small for gestational age, with a history of adrenal crisis and elevated 17\u2010hydroxyprogesterone (17\u2010OHP). Genetic testing revealed homozygosity for two common pathogenic\n                    <jats:italic>CYP21A2<\/jats:italic>\n                    variants: c.293\u201013C &gt;G and c.1360C &gt;T (p.Pro454Ser), both variants were found in the heterozygous state in the mother while the father\u2019s\n                    <jats:italic>CYP21A2<\/jats:italic>\n                    molecular testing was negative. UPD testing was pursued and the results were consistent with the patient having maternal isodisomy of chromosome 6. In cases of patients with CAH due to homozygous\n                    <jats:italic>CYP21A2<\/jats:italic>\n                    variants, suspicion for UPD may be increased if the child also presents with intrauterine growth restriction (IUGR), or transient neonatal diabetes (TNDM) mellitus, associated with maternal and paternal UPD of chromosome 6, respectively.\n                  <\/jats:p>","DOI":"10.1155\/crie\/3596318","type":"journal-article","created":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T08:46:48Z","timestamp":1780649208000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["21\u2010Hydroxylase Deficient Congenital Adrenal Hyperplasia Due to Maternal Uniparental Isodisomy"],"prefix":"10.1155","volume":"2026","author":[{"given":"Michelle L.","family":"Kluge","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynn","family":"Schema","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katy","family":"Schroepfer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily K.","family":"Thoreson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyriakie","family":"Sarafoglou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ross A.","family":"Rowsey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cherisse A.","family":"Marcou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann M.","family":"Moyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6544-0766","authenticated-orcid":false,"given":"Matthew J.","family":"Schultz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,6,5]]},"reference":[{"key":"e_1_2_10_1_2","doi-asserted-by":"publisher","DOI":"10.1210\/endrev\/bnab016"},{"key":"e_1_2_10_2_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-2631"},{"key":"e_1_2_10_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.12.1014"},{"key":"e_1_2_10_4_2","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199911000-00004"},{"key":"e_1_2_10_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31408"},{"key":"e_1_2_10_6_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-0319"},{"key":"e_1_2_10_7_2","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj.EJ13-0509"},{"key":"e_1_2_10_8_2","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.3680"},{"key":"e_1_2_10_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.324"},{"key":"e_1_2_10_10_2","doi-asserted-by":"publisher","DOI":"10.1297\/cpe.27.113"},{"key":"e_1_2_10_11_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1300057110"},{"key":"e_1_2_10_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-023-06045-0"},{"key":"e_1_2_10_13_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-023-00670-0"}],"container-title":["Case Reports in Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crie\/3596318","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crie\/3596318","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crie\/3596318","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T08:46:50Z","timestamp":1780649210000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crie\/3596318"}},"subtitle":[],"editor":[{"given":"Kalyani","family":"Sen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1155\/crie\/3596318"],"URL":"https:\/\/doi.org\/10.1155\/crie\/3596318","archive":["Portico"],"relation":{},"ISSN":["2090-6501","2090-651X"],"issn-type":[{"value":"2090-6501","type":"print"},{"value":"2090-651X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2025-10-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-28","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-06-05","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"3596318"}}