{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T20:05:38Z","timestamp":1780344338981,"version":"3.54.1"},"reference-count":71,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,11,9]],"date-time":"2025-11-09T00:00:00Z","timestamp":1762646400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Mixed gonadal dysgenesis (MGD) is a rare form of differences in sex development (DSD) typically associated with 45,X\/46,XY mosaicism. The phenotypic presentation of MGD varies from atypical genitalia to typical male or female appearances often associated with Turner stigmata. Some of the challenges in the clinical management of patients with MGD include gonadal malignancy risk, decisions on gonadectomy, fertility and sex of rearing. The management is predominantly multidisciplinary with a focus on patient and family centred care.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      This article was prepared as a narrative review based on a comprehensive search of the literature. A systematic search of the PubMed, Embase, Scopus, and Google Scholar databases was performed using the key terms\n                      <jats:italic>\u201cmixed gonadal dysgenesis,\u201d \u201c45,X\/46,XY mosaicism,\u201d \u201cdifferences in sex development,\u201d and \u201cgonadal tumour risk\u201d<\/jats:italic>\n                      to identify relevant articles published between 2000 and 2024. References from the identified papers were further screened to capture additional relevant literature. We gathered the findings to provide an updated overview of MGD, focusing on epidemiology, clinical manifestations, diagnostic evaluation, malignancy risk, approaches to management, psychosocial considerations, and evolving strategies in the long\u2010term care of patients with MGD.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>MGD accounts for 5%\u201315% of cases of atypical genitalia and carries a 15%\u201325% risk of gonadal tumour, with the highest malignancy rates in intra\u2010abdominal gonads. Approximately 12%\u201315% of patients with MGD may experience gender incongruence later in life. Management has shifted from early surgical intervention to a multidisciplinary, patient\u2010centred, and shared decision making approach.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The future care of patients with MGD is likely to include biomarker\u2010driven surveillance, along with advanced fertility preservation techniques. Long\u2010term outcome data for patients with MGD along with patient\u2010reported outcomes, are limited in the literature, underscoring the need for further research.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/cen.70053","type":"journal-article","created":{"date-parts":[[2025,11,10]],"date-time":"2025-11-10T05:47:24Z","timestamp":1762753644000},"page":"92-102","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Mixed Gonadal Dysgenesis: A Comprehensive Review of Clinical Spectrum, Diagnostic Strategies, and Management Approaches"],"prefix":"10.1111","volume":"104","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8129-1978","authenticated-orcid":false,"given":"Dinesh","family":"Giri","sequence":"first","affiliation":[{"name":"Bristol Royal Hospital for Children Bristol UK"},{"name":"University of Bristol Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-2274-6255","authenticated-orcid":false,"given":"Sushil","family":"Yewale","sequence":"additional","affiliation":[{"name":"Alder Hey Children's Hospital Liverpool UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah","family":"Hickingbotham","sequence":"additional","affiliation":[{"name":"Croydon University Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cara","family":"Williams","sequence":"additional","affiliation":[{"name":"Alder Hey Children's Hospital Liverpool UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6161-5784","authenticated-orcid":false,"given":"Mohamed","family":"Shalaby","sequence":"additional","affiliation":[{"name":"Bristol Royal Hospital for Children Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Alderson","sequence":"additional","affiliation":[{"name":"Bristol Royal Hospital for Children Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3545-6126","authenticated-orcid":false,"given":"Julie","family":"Park","sequence":"additional","affiliation":[{"name":"Alder Hey Children's Hospital Liverpool UK"},{"name":"University of Liverpool Liverpool UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,11,9]]},"reference":[{"issue":"2","key":"e_1_2_11_2_1","first-page":"155","article-title":"\u201cMixed\u201d Gonadal Dysgenesis: A Variety of Hermaphroditism","volume":"15","author":"Sohval A. 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