{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T15:51:54Z","timestamp":1753890714848,"version":"3.41.2"},"reference-count":20,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T00:00:00Z","timestamp":1699833600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>11\u03b2-Hydroxylase deficiency (11\u03b2-OHD, OMIM#202010) is the second most common form of congenital adrenal hyperplasia (CAH) caused by pathogenic variants in the <jats:italic>CYP11B1<\/jats:italic> gene. Both single nucleotide variations (SNV)\/small insertion and deletion and genomic rearrangements of <jats:italic>CYP11B1<\/jats:italic> are important causes of 11\u03b2-OHD. Among these variant types, pathogenic <jats:italic>CYP11B2<\/jats:italic>\/<jats:italic>CYP11B1<\/jats:italic> chimeras only contribute to a minority of cases. Heterozygote cases (chimera combined with SNV) are very rare, and genetic analysis of these cases can be challenging.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case presentation<\/jats:title><jats:p>We presented a suspected 11\u03b2-OHD female patient with incomplete virilization, adrenal hyperplasia, and hypokalemia hypertension. Whole exome sequencing (WES) revealed that the patient carried both a chimeric <jats:italic>CYP11B2\/CYP11B1<\/jats:italic> and a novel missense variant, NM_000497.4: c.203T&amp;gt;G, p.Val68Gly (chr8:143961027) in <jats:italic>CYP11B1<\/jats:italic>, which were confirmed by CNVplex and Sanger sequencing, respectively. The patient\u2019s manifestations and genetic findings confirmed the diagnosis of 11\u03b2-OHD, and oral dexamethasone was administered as a subsequent treatment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This report showed a rare <jats:italic>CYP11B2<\/jats:italic>\/<jats:italic>CYP11B1<\/jats:italic> chimera combined with a novel missense variant in a 11\u03b2-OHD female patient. The result expands variant spectrum of <jats:italic>CYP11B1<\/jats:italic> and suggests that both chimera and <jats:italic>CYP11B1<\/jats:italic> variant screening should be performed simultaneously in suspected cases of 11\u03b2-OHD. To our knowledge, this is the first report about <jats:italic>CYP11B2<\/jats:italic>\/<jats:italic>CYP11B1<\/jats:italic> chimera detected by WES analysis. WES combined with CNV analysis is an efficient method in the genetic diagnosis of this rare and complex disorder.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fendo.2023.1216767","type":"journal-article","created":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T19:47:37Z","timestamp":1699904857000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Case Report: A combination of chimeric CYP11B2\/CYP11B1 and a novel p.Val68Gly CYP11B1 variant causing 11\u03b2-Hydroxylase deficiency in a Chinese 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