{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T15:41:54Z","timestamp":1784907714258,"version":"3.55.0"},"reference-count":0,"publisher":"Bioscientifica","issue":"12","license":[{"start":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T00:00:00Z","timestamp":1638316800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["ec.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,12,1]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      The literature regarding gonadoblastoma risk in exonic Wilms\u2019 tumor suppressor gene (\n                      <jats:italic>WT1)<\/jats:italic>\n                      pathogenic variants is sparse. The aim of this study is to describe the phenotypic and genotypic characteristics of Asian\u2013Indian patients with\n                      <jats:italic>WT1<\/jats:italic>\n                      pathogenic variants and systematically review the literature on association of exonic\n                      <jats:italic>WT1<\/jats:italic>\n                      pathogenic variants and gonadoblastoma.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>Combined retrospective\u2013prospective analysis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      In this study, 46,XY DSD patients with\n                      <jats:italic>WT1<\/jats:italic>\n                      pathogenic variants detected by clinical exome sequencing from a cohort of 150 index patients and their affected relatives were included. The PubMed database was searched for the literature on gonadoblastoma with exonic\n                      <jats:italic>WT1<\/jats:italic>\n                      pathogenic variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The prevalence of\n                      <jats:italic>WT1<\/jats:italic>\n                      pathogenic variants among 46,XY DSD index patients was 2.7% (4\/150). All the four patients had atypical genitalia and cryptorchidism. None of them had Wilms\u2019 tumor till the last follow-up, whereas one patient had late-onset nephropathy. 11p13 deletion was present in one patient with aniridia. The family with p.Arg458Gln pathogenic variant had varied phenotypic spectrum of Frasier syndrome; two siblings had gonadoblastoma, one of them had growing teratoma syndrome (first to report with WT1). On literature review, of &gt;100 exonic point pathogenic variants, only eight variants (p.Arg462Trp, p.Tyr177*, p.Arg434His, p.Met410Arg, p.Gln142*, p.Glu437Lys, p.Arg458*, and p.Arg458Gln) in\n                      <jats:italic>WT1<\/jats:italic>\n                      were associated with gonadoblastoma in a total of 15 cases (including our two cases).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      <jats:italic>WT1<\/jats:italic>\n                      alterations account for 3% of 46,XY DSD patients in our cohort. 46,XY DSD patients harboring exonic\n                      <jats:italic>WT1<\/jats:italic>\n                      pathogenic variants carry a small but definitive risk of gonadoblastoma; hence, these patients require a gonadoblastoma surveillance with a more stringent surveillance in those harboring a gonadoblastoma-associated variant.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1530\/ec-21-0289","type":"journal-article","created":{"date-parts":[[2021,11,2]],"date-time":"2021-11-02T14:41:48Z","timestamp":1635864108000},"page":"1522-1530","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-10","source":"Crossref","is-referenced-by-count":8,"title":["Exonic WT1 pathogenic variants in 46,XY DSD associated with gonadoblastoma"],"prefix":"10.1530","volume":"10","author":[{"given":"Sneha","family":"Arya","sequence":"first","affiliation":[{"name":"1Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandeep","family":"Kumar","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9623-4471","authenticated-orcid":true,"given":"Anurag R","family":"Lila","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vijaya","family":"Sarathi","sequence":"additional","affiliation":[{"name":"2Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Centre, Bangalore, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saba Samad","family":"Memon","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rohit","family":"Barnabas","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hemangini","family":"Thakkar","sequence":"additional","affiliation":[{"name":"3Department of Radiology, Seth G S Medical College & KEM Hospital, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virendra A","family":"Patil","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nalini S","family":"Shah","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tushar R","family":"Bandgar","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","container-title":["Endocrine Connections"],"original-title":[],"link":[{"URL":"https:\/\/ec.bioscientifica.com\/view\/journals\/ec\/10\/12\/EC-21-0289.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/ec.bioscientifica.com\/downloadpdf\/journals\/ec\/10\/12\/EC-21-0289.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:44:43Z","timestamp":1784555083000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.bioscientifica.com\/ec\/article\/10\/12\/1522-1530\/199"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,1]]},"references-count":0,"journal-issue":{"issue":"12"},"URL":"https:\/\/doi.org\/10.1530\/ec-21-0289","relation":{},"ISSN":["2049-3614"],"issn-type":[{"value":"2049-3614","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,12,1]]}}}