{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T16:16:19Z","timestamp":1777047379577,"version":"3.51.4"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T00:00:00Z","timestamp":1776988800000},"content-version":"vor","delay-in-days":113,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Endocrinology"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Denys\u2010Drash syndrome (DDS) is a rare genetic disorder characterized by mutations in the Wilms tumor suppressor gene (\n                      <jats:italic>WT1<\/jats:italic>\n                      ), leading to a triad of conditions including nephrotic syndrome progressing to end\u2010stage renal disease (ESRD), Wilms tumor, and ambiguous genitalia. We present two pediatric cases illustrating the complexity and variability of DDS.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      The first case is a 7\u2010month\u2010old male presenting with ambiguous genitalia, nephropathy, and intussusception. Genetic analysis identified a likely pathogenic heterozygous\n                      <jats:italic>WT1<\/jats:italic>\n                      variant: c.1384C &gt;T (p.Gln462Ter). Despite surgical interventions, treatment was delayed due to COVID\u201019 restrictions, and the patient unfortunately passed away at 16 months during the lockdown period. The second case involves an 8\u2010month\u2010old female with normal external genitalia, a horseshoe kidney, bilateral renal masses, and recurrent hypotensive episodes. Genetic testing revealed a pathogenic heterozygous\n                      <jats:italic>WT1<\/jats:italic>\n                      variant: c.453G &gt;A (p.Trp151Ter). She was diagnosed with DDS\u2013associated Wilms tumor and, despite aggressive management, passed away at 21 months.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>These cases underscore the importance of early diagnosis, multidisciplinary management, and personalized therapeutic approaches in DDS patients. Bilateral nephrectomy, renal transplantation, and monitoring for Wilms tumor are pivotal in improving prognosis, though variability in clinical presentations often complicates decision\u2010making.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1155\/crie\/8875066","type":"journal-article","created":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T15:26:48Z","timestamp":1777044408000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Denys\u2010Drash Syndrome by\n                    <i>WT1<\/i>\n                    Gene: Clinical Variability and Management Challenges in Two Saudi Infants"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-8345-0965","authenticated-orcid":false,"given":"Waleed","family":"AL-Amoudi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6677-0452","authenticated-orcid":false,"given":"Raghad","family":"Alhuthil","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-0764-463X","authenticated-orcid":false,"given":"Abdulrahman","family":"Alnwiji","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-2041-6706","authenticated-orcid":false,"given":"Megren S.","family":"Alqarni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4654-8560","authenticated-orcid":false,"given":"Sarah","family":"Murad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1844-4377","authenticated-orcid":false,"given":"Afaf","family":"Alsagheir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,4,24]]},"reference":[{"key":"e_1_2_12_1_2","doi-asserted-by":"publisher","DOI":"10.5414\/CNCS109515"},{"key":"e_1_2_12_2_2","unstructured":"NORD National Organization for Rare Disorders [cited 2025 Feb 25] 2023 https:\/\/rarediseases.org\/rare-diseases\/denys-drash-syndrome\/."},{"key":"e_1_2_12_3_2","volume-title":"Ambiguous Genitalia and Disorders of Sexual Differentiation. Treasure Island (FL): StatPearls Publishing; 2025 Jan\u2013[Updated 2023 Aug 28; cited 2025 Feb 25]","author":"Mehmood K. T."},{"key":"e_1_2_12_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00860765"},{"key":"e_1_2_12_5_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-244X-14-154"},{"key":"e_1_2_12_6_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.1998.00948.x"},{"key":"e_1_2_12_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.21759"},{"key":"e_1_2_12_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpurol.2017.09.027"},{"key":"e_1_2_12_9_2","doi-asserted-by":"publisher","DOI":"10.1159\/000502074"},{"key":"e_1_2_12_10_2","first-page":"275","volume-title":"Nihon Rinsho","author":"Tohda A.","year":"2004"},{"key":"e_1_2_12_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.diff.2012.06.003"},{"key":"e_1_2_12_12_2","doi-asserted-by":"publisher","DOI":"10.4103\/jiaps.JIAPS_70_18"},{"key":"e_1_2_12_13_2","first-page":"244","volume-title":"InSeminars in perinatology 2017","author":"Krishna K. B."},{"key":"e_1_2_12_14_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-024-06302-y"},{"key":"e_1_2_12_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ekir.2025.01.014"},{"key":"e_1_2_12_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-008-0845-7"},{"key":"e_1_2_12_17_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12882-017-0643-1"},{"key":"e_1_2_12_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30015"},{"key":"e_1_2_12_19_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10157-024-02510-w"},{"key":"e_1_2_12_20_2","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/13.6.1506"}],"container-title":["Case Reports in Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crie\/8875066","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crie\/8875066","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crie\/8875066","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T15:26:51Z","timestamp":1777044411000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crie\/8875066"}},"subtitle":[],"editor":[{"given":"Kalyani","family":"Sen","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1155\/crie\/8875066"],"URL":"https:\/\/doi.org\/10.1155\/crie\/8875066","archive":["Portico"],"relation":{},"ISSN":["2090-6501","2090-651X"],"issn-type":[{"value":"2090-6501","type":"print"},{"value":"2090-651X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2025-07-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-04-04","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-04-24","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"8875066"}}