{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T12:55:06Z","timestamp":1770814506537,"version":"3.50.1"},"reference-count":12,"publisher":"The Endocrine Society","issue":"2","license":[{"start":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T00:00:00Z","timestamp":1770768000000},"content-version":"vor","delay-in-days":34,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82300982"],"award-info":[{"award-number":["82300982"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82370796"],"award-info":[{"award-number":["82370796"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008750","name":"Shanghai Municipal Hospital Development Center","doi-asserted-by":"publisher","award":["SHDC22025304"],"award-info":[{"award-number":["SHDC22025304"]}],"id":[{"id":"10.13039\/501100008750","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008750","name":"Shanghai Municipal Hospital Development Center","doi-asserted-by":"publisher","award":["SHDC2025CCS022"],"award-info":[{"award-number":["SHDC2025CCS022"]}],"id":[{"id":"10.13039\/501100008750","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008750","name":"Shanghai Municipal Hospital Development Center","doi-asserted-by":"publisher","award":["SHDC2024CRI023"],"award-info":[{"award-number":["SHDC2024CRI023"]}],"id":[{"id":"10.13039\/501100008750","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100018537","name":"National Science and Technology Major Project","doi-asserted-by":"publisher","award":["2023ZD0517900"],"award-info":[{"award-number":["2023ZD0517900"]}],"id":[{"id":"10.13039\/501100018537","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,1,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Waardenburg syndrome (WS) is a complex genetic disorder primarily characterized by auditory and pigmentary abnormalities, resulting from neural crest cell migration disorders. We reported 2 genetically confirmed SOX10-mutant WS cases illustrating critical management principles. Both patients underwent early auditory intervention (case 1: cochlear implantation at age 3; case 2: hearing aids from age 2), resulting in preserved age-appropriate language acquisition. Each case manifested delayed puberty with biochemical evidence of hypogonadotropic hypogonadism, necessitating gonadotropin therapy to potentiate virilization and preserve fertility. Multidisciplinary care and emerging therapeutic approaches offer hope for better management. Further studies are warranted to improve the diagnosis, treatment, and quality of life of patients with WS.<\/jats:p>","DOI":"10.1210\/jcemcr\/luaf339","type":"journal-article","created":{"date-parts":[[2025,12,29]],"date-time":"2025-12-29T12:24:40Z","timestamp":1767011080000},"source":"Crossref","is-referenced-by-count":0,"title":["<i>SOX10<\/i>\n                    Mutation of Waardenburg Syndrome With Hypogonadism: A Report of 2 Cases"],"prefix":"10.1210","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5167-3262","authenticated-orcid":false,"given":"Yuying","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute of Endocrine and Metabolic Diseases, and Shanghai Clinical Center for Endocrine and Metabolic Diseases , Shanghai 200025 ,","place":["China"]},{"name":"Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai National Clinical Research Center for Metabolic Diseases, Shanghai National Center for Translational Medicine, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine , Shanghai 200025 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute of Endocrine and Metabolic Diseases, and Shanghai Clinical Center for Endocrine and Metabolic Diseases , Shanghai 200025 ,","place":["China"]},{"name":"Department of Endocrinology, Xi\u2019an No. 3 Hospital, The Affiliated Hospital of Northwest University , Xi\u2019an 710038 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sichang","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute of Endocrine and Metabolic Diseases, and Shanghai Clinical Center for Endocrine and Metabolic Diseases , Shanghai 200025 ,","place":["China"]},{"name":"Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai National Clinical Research Center for Metabolic Diseases, Shanghai National Center for Translational Medicine, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine , Shanghai 200025 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2078-8125","authenticated-orcid":false,"given":"Yiran","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute of Endocrine and Metabolic Diseases, and Shanghai Clinical Center for Endocrine and Metabolic Diseases , Shanghai 200025 ,","place":["China"]},{"name":"Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai National Clinical Research Center for Metabolic Diseases, Shanghai National Center for Translational Medicine, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine , Shanghai 200025 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lei","family":"Ye","sequence":"additional","affiliation":[{"name":"Department of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute of Endocrine and Metabolic Diseases, and Shanghai Clinical Center for Endocrine and Metabolic Diseases , Shanghai 200025 ,","place":["China"]},{"name":"Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai National Clinical Research Center for Metabolic Diseases, Shanghai National Center for Translational Medicine, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine , Shanghai 200025 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2330-4977","authenticated-orcid":false,"given":"Shouyue","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute of Endocrine and Metabolic Diseases, and Shanghai Clinical Center for Endocrine and Metabolic Diseases , Shanghai 200025 ,","place":["China"]},{"name":"Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai National Clinical Research Center for Metabolic Diseases, Shanghai National Center for Translational Medicine, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine , Shanghai 200025 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