{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T06:30:30Z","timestamp":1787725830489,"version":"build-2784847793"},"reference-count":23,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T00:00:00Z","timestamp":1787702400000},"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:sec>\n                    <jats:title>Purpose<\/jats:title>\n                    <jats:p>To report a pediatric patient with coexisting complete androgen insensitivity syndrome (CAIS), neurofibromatosis type 1 (NF1), and 15pstk\u2009+\u2009polymorphism, and to analyze its clinical phenotypes and molecular genetic characteristics.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Clinical data of a 7-year-and-11-month-old patient with female social gender were retrospectively analyzed. Pathogenic gene variants were identified by whole-exome sequencing (WES), pedigree verification was performed by Sanger sequencing, and variant pathogenicity was evaluated using bioinformatics tools.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The patient exhibited typical phenotypes of both diseases, accompanied by unique features, including epicanthal folds, webbed neck, broad great toes and thumbs. WES identified a maternally inherited hemizygous missense variant in the\n                      <jats:italic>AR<\/jats:italic>\n                      gene (c.2599G\u2009&amp;gt;\u2009A, p.Val867Met) and a\n                      <jats:italic>de novo<\/jats:italic>\n                      heterozygous missense variant in the\n                      <jats:italic>NF1<\/jats:italic>\n                      gene (c.5488C\u2009&amp;gt;\u2009T, p.Arg1830Cys).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This is the first report of concurrent CAIS and NF1, which enriches and expands the genotypic and phenotypic spectra of both disorders.<\/jats:p>\n                  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