{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T07:04:32Z","timestamp":1774940672175,"version":"3.50.1"},"reference-count":23,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T00:00:00Z","timestamp":1774915200000},"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. Pediatr."],"abstract":"<jats:p>\n                    Congenital adrenal hyperplasia (CAH) is caused by variants in the\n                    <jats:italic>CYP21A2<\/jats:italic>\n                    gene and subsequently results in 21-hydroxylase deficiency. The non-classic form of CAH (NCCAH) often occurs in late puberty or in young adults due to a mild excess in postnatal androgen synthesis. This case report presents a case of a Chinese girl diagnosed with NCCAH. Clinical examinations and adrenal computed tomography were conducted in accordance with the standards and guidelines. Further genetic analysis was performed using PCR, next-generation sequencing, and multiplex ligation-dependent probe amplification. Clinical examinations demonstrated that the patient had amenorrhea, hyperandrogenism, insulin resistance, adrenal hyperplasia, and a masculine vulva, while polycystic ovary syndrome was excluded. Genetic analysis identified a compound heterozygous mutation comprising the c.92C&amp;gt;T p.Pro31Leu and exons 1\u20133 del variants in the\n                    <jats:italic>CYP21A2<\/jats:italic>\n                    gene, while the exons 1\u20133 ins\/del variant mainly caused the lack of CYP21A2 function. Herein, we report a Chinese girl with NCCAH due to a heterozygous mutation comprising the p.Pro31Leu and exons 1\u20133 ins\/del variants in\n                    <jats:italic>CYP21A2<\/jats:italic>\n                    .\n                  <\/jats:p>","DOI":"10.3389\/fped.2026.1778805","type":"journal-article","created":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T05:33:12Z","timestamp":1774935192000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Compound heterozygous mutation comprising p.Pro31Leu and exons 1\u20133 ins\/del variants in CYP21A2 causes non-classical congenital adrenal hyperplasia in a Chinese girl"],"prefix":"10.3389","volume":"14","author":[{"given":"Nan","family":"Li","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Jiangsu Province Hospital of Chinese Medicine, The Affiliated Hospital of Nanjing University of Chinese Medicine","place":["Nanjing, Jiangsu, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chao","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Radiology, Jiangsu Province Hospital of Chinese Medicine, The Affiliated Hospital of Nanjing University of Chinese Medicine","place":["Nanjing, Jiangsu, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harvest F.","family":"Gu","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Medicine, School of Basic Medicine and Clinical Pharmacy, China Pharmaceutical University","place":["Nanjing, Jiangsu, China"]},{"name":"College of Pharmacy, Qilu Medical University","place":["Zibo, Shandong, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaofei","family":"An","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Jiangsu Province Hospital of Chinese Medicine, The Affiliated Hospital of Nanjing University of Chinese Medicine","place":["Nanjing, 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