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Abstract：
UNASSIGNED: To summarize the clinical characteristics, genetics and follow-up data of four children with thyroid hormone resistance (RTH) syndrome and review the related literatures.
UNASSIGNED: The clinical data of the four children diagnosed with RTH syndrome in our hospital from 2018 to 2020 were retrospectively analyzed. Next-generation sequencing of the candidate genes related to thyroid diseases was performed using the blood collected from all the children and their parents who signed an informed consent. Then, relevant cases were retrieved on medical literature databases for analysis and summary.
UNASSIGNED: Among the four cases, three cases of goiter; two cases of tachycardia, palpitations, personality change, hyperactivity, weight loss; one case of academic performance decline, and no hearing and vision loss were observed. Laboratory thyroid function tests indicated a mild increase in free triiodothyronine and with or without increased free thyroxine levels. Thyroid-stimulating hormone (TSH) levels were normal or slightly elevated, but thyrotropin receptor autoantibodies were negative. Octreotide inhibition test showed that the TSH levels of all the children decreased by more than 50% compared with the basal value (the genes of four cases were positive). However, magnetic resonance imaging of the pituitary gland showed no abnormalities. Related gene detection in the children and their families showed that four cases had THRB mutations: two proband mutations were from their fathers, and two cases had de novo mutations.
UNASSIGNED: The clinical manifestations of pediatric RTH syndrome vary, and the diagnosis mainly depends on thyroid function tests. Heterozygous mutations in THRB are overall rare, even if with the advanced development of next-generation sequencing, not all the children with RTH syndrome have mutations. Furthermore, octreotide inhibition tests cannot be used as a diagnostic criterion to distinguish RTH syndrome from pituitary tumors in children.
UNASSIGNED: The clinical data of the four children diagnosed with RTH syndrome in our hospital from 2018 to 2020 were retrospectively analyzed. Next-generation sequencing of the candidate genes related to thyroid diseases was performed using the blood collected from all the children and their parents who signed an informed consent. Then, relevant cases were retrieved on medical literature databases for analysis and summary.
UNASSIGNED: Among the four cases, three cases of goiter; two cases of tachycardia, palpitations, personality change, hyperactivity, weight loss; one case of academic performance decline, and no hearing and vision loss were observed. Laboratory thyroid function tests indicated a mild increase in free triiodothyronine and with or without increased free thyroxine levels. Thyroid-stimulating hormone (TSH) levels were normal or slightly elevated, but thyrotropin receptor autoantibodies were negative. Octreotide inhibition test showed that the TSH levels of all the children decreased by more than 50% compared with the basal value (the genes of four cases were positive). However, magnetic resonance imaging of the pituitary gland showed no abnormalities. Related gene detection in the children and their families showed that four cases had THRB mutations: two proband mutations were from their fathers, and two cases had de novo mutations.
UNASSIGNED: The clinical manifestations of pediatric RTH syndrome vary, and the diagnosis mainly depends on thyroid function tests. Heterozygous mutations in THRB are overall rare, even if with the advanced development of next-generation sequencing, not all the children with RTH syndrome have mutations. Furthermore, octreotide inhibition tests cannot be used as a diagnostic criterion to distinguish RTH syndrome from pituitary tumors in children.
摘要：
未经授权：总结临床特征，4例甲状腺激素抵抗(RTH)综合征患儿的遗传学及随访资料,并复习相关文献。
UNASSIGNED：回顾性分析2018-2020年在我院确诊的4例RTH综合征患儿的临床资料。使用从所有签署知情同意书的儿童及其父母收集的血液，对与甲状腺疾病相关的候选基因进行下一代测序。然后，在医学文献数据库中检索相关病例进行分析和总结.
未经评估：在四个案例中，甲状腺肿3例，心动过速2例，心悸,人格改变,多动症,体重减轻；一例学习成绩下降，未观察到听力和视力丧失。实验室甲状腺功能检查表明，游离三碘甲状腺原氨酸轻度增加，游离甲状腺素水平升高或不升高。促甲状腺激素（TSH）水平正常或略有升高，但是促甲状腺激素受体自身抗体呈阴性。奥曲肽抑制试验显示,所有患儿的TSH水平均较基础值下降50%以上(4例基因阳性)。然而,垂体的磁共振成像未显示异常。在儿童及其家庭中的相关基因检测显示，有4例患者存在THRB突变：其中2例来自其父亲，两例有从头突变。
未经授权：小儿RTH综合征的临床表现各不相同，诊断主要依靠甲状腺功能检查。在THRB杂合突变是整体罕见的，即使随着下一代测序技术的发展，并非所有的RTH综合征患儿都有突变.此外，奥曲肽抑制试验不能用作区分儿童RTH综合征和垂体肿瘤的诊断标准。
UNASSIGNED：回顾性分析2018-2020年在我院确诊的4例RTH综合征患儿的临床资料。使用从所有签署知情同意书的儿童及其父母收集的血液，对与甲状腺疾病相关的候选基因进行下一代测序。然后，在医学文献数据库中检索相关病例进行分析和总结.
未经评估：在四个案例中，甲状腺肿3例，心动过速2例，心悸,人格改变,多动症,体重减轻；一例学习成绩下降，未观察到听力和视力丧失。实验室甲状腺功能检查表明，游离三碘甲状腺原氨酸轻度增加，游离甲状腺素水平升高或不升高。促甲状腺激素（TSH）水平正常或略有升高，但是促甲状腺激素受体自身抗体呈阴性。奥曲肽抑制试验显示,所有患儿的TSH水平均较基础值下降50%以上(4例基因阳性)。然而,垂体的磁共振成像未显示异常。在儿童及其家庭中的相关基因检测显示，有4例患者存在THRB突变：其中2例来自其父亲，两例有从头突变。
未经授权：小儿RTH综合征的临床表现各不相同，诊断主要依靠甲状腺功能检查。在THRB杂合突变是整体罕见的，即使随着下一代测序技术的发展，并非所有的RTH综合征患儿都有突变.此外，奥曲肽抑制试验不能用作区分儿童RTH综合征和垂体肿瘤的诊断标准。
