{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T16:43:30Z","timestamp":1787849010519,"version":"build-2784847793"},"reference-count":39,"publisher":"SAGE Publications","issue":"10","license":[{"start":{"date-parts":[[2025,9,8]],"date-time":"2025-09-08T00:00:00Z","timestamp":1757289600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Thyroid\u00ae"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      <jats:italic toggle=\"yes\">DUOX2<\/jats:italic>\n                      is a major cause of congenital hypothyroidism (CH) in Chinese patients, but clinical outcomes for those with biallelic\n                      <jats:italic toggle=\"yes\">DUOX2<\/jats:italic>\n                      mutations remain unclear. This study aimed to describe the clinical manifestations of CH due to\n                      <jats:italic toggle=\"yes\">DUOX2<\/jats:italic>\n                      defect.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>\n                      One hundred eighty-one patients with primary CH were recruited initially and were subjected to genetic screening. Patients with\n                      <jats:italic toggle=\"yes\">DUOX2<\/jats:italic>\n                      biallelic mutations were chosen. After 3 years of age, 28 patients underwent a prospective clinical reevaluation after levothyroxine (LT4) withdrawal. Subsequent periodic evaluation of thyroid function was executed to evaluate the necessity of LT4 retreatment. The medical histories of all patients before the age of three years were collected and analyzed. DUOX2 residual enzymatic activity was also calculated relative to clinical outcomes.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      Twenty-eight patients who were reevaluated were divided into three groups: patients with permanent CH (PCH; 7\/28 [25%]), patients with transient CH (TCH; 6\/28 [21.4%]), and patients with hyperthyrotropinemia (15\/28 [53.6%]). The median duration of follow-up was 17.5 months (interquartile range: 8.5, 29.25). The correlation between DUOX2 residual enzymatic activity and the clinical outcome of patients with CH with\n                      <jats:italic toggle=\"yes\">DUOX2<\/jats:italic>\n                      biallelic mutations was not clear in this study. No significant differences in laboratory findings at diagnosis were observed among the three groups. LT4 dose decreased with age in TCH but remained stable in PCH. Doses at ages 2, 3, and pre-withdrawal were significantly higher in PCH versus TCH (\n                      <jats:italic toggle=\"yes\">p<\/jats:italic>\n                      = 0.027;\n                      <jats:italic toggle=\"yes\">p<\/jats:italic>\n                      = 0.003;\n                      <jats:italic toggle=\"yes\">p<\/jats:italic>\n                      = 0.025). After LT4 withdrawal, serum thyroglobulin levels and thyroid size increased in most patients (especially hyperthyrotropinemia group) and often persisted for months. Moreover, thyrotropin levels normalized in 44.4% of patients with hyperthyrotropinemia after more than one year off LT4.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>\n                      Some patients with CH and\n                      <jats:italic toggle=\"yes\">DUOX2<\/jats:italic>\n                      biallelic mutations may have TCH or hyperthyrotropinemia. These patients should undergo long-term follow-up to prevent excessive compensatory thyroid hyperplasia.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/10507256251372195","type":"journal-article","created":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T19:56:21Z","timestamp":1758830181000},"page":"1120-1128","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Clinical Outcomes of Congenital Hypothyroidism Due to\n                    <i>DUOX2<\/i>\n                    Biallelic Mutations after Levothyroxine Withdrawal"],"prefix":"10.1177","volume":"35","author":[{"given":"Feng","family":"Sun","sequence":"first","affiliation":[{"name":"Department of Molecular Diagnostics, Department of Endocrinology, The Core Laboratory in Medical Center of Clinical Research, Shanghai Ninth People\u2019s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia-Ping","family":"Wan","sequence":"additional","affiliation":[{"name":"Department of Molecular Diagnostics, Department of Endocrinology, The Core Laboratory in Medical Center of Clinical Research, Shanghai Ninth People\u2019s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China."},{"name":"Department of Endocrinology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Na-Na","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Maternal and Child Health Institute of Bozhou, Bozhou, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiayida","family":"Nulali","sequence":"additional","affiliation":[{"name":"Department of Molecular Diagnostics, Department of Endocrinology, The Core Laboratory in Medical Center of Clinical Research, Shanghai Ninth People\u2019s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ya","family":"Fang","sequence":"additional","affiliation":[{"name":"Department of Molecular Diagnostics, Department of Endocrinology, The Core Laboratory in Medical Center of Clinical Research, Shanghai Ninth People\u2019s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China."},{"name":"Department of Endocrinology and Metabolism, The Fourth Affiliated Hospital of Soochow University, Medical Center of Soochow University, Suzhou, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hai-Yang","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Molecular Diagnostics, Department of Endocrinology, The Core Laboratory in Medical Center of Clinical Research, Shanghai Ninth People\u2019s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen-Yang","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Molecular Diagnostics, Department of Endocrinology, The Core Laboratory in Medical Center of Clinical Research, Shanghai Ninth People\u2019s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feng-Yao","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Molecular Diagnostics, Department of Endocrinology, The Core Laboratory in Medical Center of Clinical Research, Shanghai Ninth People\u2019s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qian-Yue","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Molecular Diagnostics, Department of Endocrinology, The Core Laboratory in Medical Center of Clinical Research, Shanghai Ninth People\u2019s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui-Meng","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Molecular Diagnostics, Department of Endocrinology, The Core Laboratory in Medical Center of Clinical Research, Shanghai Ninth People\u2019s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Molecular Diagnostics, Department of Endocrinology, The Core Laboratory in Medical Center of Clinical Research, Shanghai Ninth People\u2019s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bing","family":"Han","sequence":"additional","affiliation":[{"name":"Department of Molecular Diagnostics, Department of Endocrinology, The Core Laboratory in Medical Center of Clinical Research, Shanghai Ninth People\u2019s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue-Song","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Minhang Hospital, Fudan University, Shanghai, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feng","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, Fujian Children\u2019s Hospital (Fujian Branch of Shanghai Children\u2019s Medical Center), College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen-Hua","family":"Du","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, The Linyi People\u2019s Hospital, Linyi, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuang-Xia","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Molecular Diagnostics, Department of Endocrinology, The Core Laboratory in Medical Center of Clinical Research, Shanghai Ninth People\u2019s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 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