Resistance to thyroid hormone (RTH)syndrome is characterized by reduced sensitivity to thyroid hormones (TH). It is an autosomal dominant genetic disease commonly caused by a mutation of the thyroid hormone receptor beta (THR-尾) gene. Manifestations of RTH can be variable, as one can be ...
Resistance to thyroid hormone syndrome (RTH) is an autosomal dominant or recessive genetic disease caused by mutation of either the thyroid hormone receptorβ (THR-β) gene or the thyroid hormone receptorα (THR-α) gene. RTH due to mutations of the THR-β gene (hereafter, RTH-β) is char...
Resistance to thyroid hormone induced tachycardia in RTHα syndromeRiccardo Dore, Laura Watson, Stefanie Hollidge, Christin Krause, Sarah Christine Sentis, Rebecca Oelkrug, Cathleen Geißler, Kornelia Johann, Mehdi Pedaran, Greta Lyons, Nuria Lopez-Alcantara, Julia Resch, ...
【疾病名】甲状腺激素抵抗综合征 【英文名】Thyroid hormone resistance syndrome 【别名】syndrome of resistance to thyroid hormone;syndrome of thyroid hormone resistance;甲状腺激素不反应综合征;甲状腺激素不敏 综合征;甲状腺激素不应症;甲状腺激素抵抗综合症 【ICD 号】E07.8 【病因和发病机制研究的进展】 1.病因...
Retinal photoreceptor functions are compromised in patients with resistance to thyroid hormone syndrome (RTHβ). Irene Campi, Gabriella Cammarata, Stefania Bianchi Marzoli, Paolo Beck-Peccoz, Diletta Santarsiero, Davide Dazzi, Alessandra Bottari de Castello, Elena Giuliana Taroni, Francesco Viola, Caterin...
Resistance to thyroid hormone (RTH) is a syndrome characterized by variable tissue hyporesponsiveness to thyroid hormone (TH). Mutations in both TH receptors (THRA and THRB) isoforms have been identified and manifest different phenotypes of RTH, RTH-alpha, and RTH-beta. Patients with the RTH-bet...
Inheritable Forms of Impaired Sensitivity to Thyroid Hormone Common Name (Synonyms) Gene and Inheritance Thyroid Function Test Pattern Clinical Features THYROID HORMONE CELL MEMBRANE TRANSPORT DEFECT Monocarboxylate transporter 8 (MCT8) defect, (Allan-Herndon-Dudley Syndrome) MCT8 (SLC16A2) gene X-...
Resistance to thyroid hormone with missense mutation (V349M) in the thyroid hormone receptor beta gene Korean J Intern Med (Korean Ed), 23 (2008), pp. 45-48 Google Scholar 8 S. Refetoff, L.T. DeWind, L.J. DeGroot Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter an...
网络甲状腺激素不敏感综合征 网络释义 1. 甲状腺激素不敏感综合征 甲状腺激素不敏感综合征(Resistance to Thyroid Hormone) 垂体和周围组织联合不敏感型 ? 选择性外周对甲状腺激素不敏感型 … wenku.baidu.com|基于 1 个网页 例句
Resistance to thyroid hormone (RTH), usually caused by an inherited defect of the thyroid hormone receptor, (TRbeta), results in a reduced responsiveness of target tissues to thyroid hormone. Until now, more than 600 cases with RTH have been identified. Although usually linked to the TRbeta ...