Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant.

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第一作者： Jasna,Suput Omladic

第一单位： Department of Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Bohoričeva 20, 1000 Ljubljana, Slovenia.;Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia.

作者： Jasna,Suput Omladic ^[1] ; Maja,Pajek ^[2] ; Urh,Groselj ^[1] ; Katarina,Trebusak Podkrajsek ^[3] ; Magdalena,Avbelj Stefanija ^[1] ; Mojca,Zerjav Tansek ^[1] ; Primoz,Kotnik ^[1] ; Tadej,Battelino ^[1] ; Darja,Smigoc Schweiger ^[1]

作者单位： Department of Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Bohoričeva 20, 1000 Ljubljana, Slovenia.;Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia. ^[1] Department of Paediatric Surgery and Intensive Care, University Medical Centre Ljubljana, Bohoričeva 20, 1000 Ljubljana, Slovenia. ^[2] Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia.;Clinical Institute for Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Vrazov trg 1, 1000 Ljubljana, Slovenia. ^[3]

关键词 FNAH TSHR central hypothyroidism familial non-autoimmune autosomal dominant hyperthyroidism radioiodine ablation therapy

主题词生殖细胞系突变(Germ-Line Mutation);格雷夫斯病(Graves Disease);人类(Humans);甲状腺功能亢进症(Hyperthyroidism);男(雄)性(Male);受体, 促甲状腺素(Receptors, Thyrotropin);促甲状腺素(Thyrotropin)

DOI 10.3390/medicina57030196

PMID 33669123

发布时间 2021-05-14

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