{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T22:20:23Z","timestamp":1772058023513,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,4,28]],"date-time":"2023-04-28T00:00:00Z","timestamp":1682640000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>X\u2010linked adrenal hypoplasia congenita (AHC) is a rare disorder, often manifesting as primary adrenal insufficiency (PAI) and hypogonadotropic hypogonadism (HH), and caused by variants of <jats:italic>NR0B1<\/jats:italic>, most of which are frame\u2010shifting variants, and few splice\u2010site variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and Results<\/jats:title><jats:p>Here, a novel splice\u2010site variant of <jats:italic>NR0B1<\/jats:italic> (NM_000475.4), c.1169\u20102A&gt;T (patient 1), and a stop\u2010loss variant of <jats:italic>NR0B1<\/jats:italic> c.1411T&gt;C (patient 2) are described in this study. We perform minigene assays for the splice\u2010site variant (c.1169\u20102A&gt;T) and determine that the variant causes exon 2 skipping. Moreover, the defect of NR0B1 protein may bring about the severe phenotype of the patient. Through 8\u2009years of follow\u2010up, we compare the CT images from 8\u2009years ago with the latest image, and observe the CT image change of adrenal in patient 2 (from the increased thickness of adrenal to adrenal atrophy).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>X\u2010linked adrenal hypoplasia congenita is produced by variants of <jats:italic>NR0B1<\/jats:italic>. We report a case that presents a novel splice\u2010site variant, which has been verified that it could lead to the exon 2 skipping in the RNA splicing progress. Moreover, we report the adrenal CT image change of patient 2, which has never been referred to before, and expand the spectrum of X\u2010linked AHC characteristics.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2171","type":"journal-article","created":{"date-parts":[[2023,4,29]],"date-time":"2023-04-29T06:45:27Z","timestamp":1682750727000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["New insights into X\u2010linked adrenal hypoplasia congenita from a novel splice\u2010site variant of <scp>NR0B1<\/scp> and adrenal <scp>CT<\/scp> images"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6448-0555","authenticated-orcid":false,"given":"Yuqing","family":"Jiang","sequence":"first","affiliation":[{"name":"Henan Key Laboratory of Rare Diseases, Endocrinology and Metabolism Center The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology 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