{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T06:09:13Z","timestamp":1789711753166,"version":"4.0.1"},"reference-count":43,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T00:00:00Z","timestamp":1789689600000},"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>Background<\/jats:title>\n                    <jats:p>\n                      Steroidogenic factor 1 (SF-1), encoded by the\n                      <jats:italic>NR5A1<\/jats:italic>\n                      gene, is a critical transcriptional regulator of adrenal and gonadal development. Pathogenic\n                      <jats:italic>NR5A1<\/jats:italic>\n                      variants lead to a broad phenotypic spectrum characterized by insufficient virilization, including gonadal and testicular dysgenesis, ambiguous genitalia, hypospadias, micropenis, cryptorchidism, anorchia, and male infertility. This case report characterizes the clinical and genetic findings in a boy and his father with differences of sex development (DSD) caused by a heterozygous\n                      <jats:italic>NR5A1<\/jats:italic>\n                      frameshift variant, thereby expanding our understanding of phenotypic mechanisms, paternal inheritance, and reproductive potential in this disorder.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      We report a unique case of a Czech family in which a father and his son exhibited a 46,XY karyotype, genital malformations, and palpable testes. Exome sequencing identified the heterozygous frameshift variant, c.614dup p.(Gln206Thrfs*20), in the\n                      <jats:italic>NR5A1<\/jats:italic>\n                      gene in both individuals. This rare\n                      <jats:italic>NR5A1<\/jats:italic>\n                      variant had previously been reported only in 46,XY female patients with DSD.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Here, we present the first report of paternal transmission of the pathogenic NM_004959.5(NR5A1):c.614dup p.(Gln206Thrfs*20) variant to an affected son. Despite the associated genital malformation and the genetic variant, the father achieved successful reproduction via\n                      <jats:italic>in vitro<\/jats:italic>\n                      fertilization.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fped.2026.1946666","type":"journal-article","created":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T05:36:01Z","timestamp":1789709761000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Father and son with a pathogenic variant c.614dup p.(Gln206Thrfs*20) in the NR5A1 gene: a case report"],"prefix":"10.3389","volume":"14","author":[{"given":"J\u00falia","family":"Martinkov\u00e1","sequence":"first","affiliation":[{"name":"Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague, Motol and Homolka University Hospital","place":["Prague, Czechia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michaela","family":"Mihulov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague, Motol and Homolka University Hospital","place":["Prague, Czechia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miroslava","family":"Bala\u0161\u010dakov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague, Motol and Homolka University Hospital","place":["Prague, Czechia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Trachta","sequence":"additional","affiliation":[{"name":"Department of Paediatric Surgery, Second Faculty of Medicine, Charles University in Prague, Motol and Homolka University Hospital, Prague, Czechia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"K\u0159epelov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague, Motol and Homolka University Hospital","place":["Prague, Czechia"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,9,18]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1007\/s00431-009-1086-x","article-title":"Ethical principles and recommendations for the medical management of differences of sex development (DSD)\/intersex in children and adolescents","volume":"169","author":"Wiesemann","year":"2010","journal-title":"Eur J Pediatr"},{"key":"B2","doi-asserted-by":"publisher","first-page":"e488","DOI":"10.1542\/peds.2006-0738","article-title":"Consensus statement on management of intersex disorders. 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