一名患有甲状腺激素受体新突变儿童的内分泌和神经心理学评估：对12个月三碘甲状腺乙酸（TRIAC）治疗的反应。
Endocrine and neuropsychological assessment in a child with a novel mutation of thyroid hormone receptor: response to 12-month triiodothyroacetic acid (TRIAC) therapy.
作者信息
Torre P, Bertoli M, Di Giovanni S, Scommegna S, Conte C, Novelli G, Cianfarani S
机构信息
Rina Balducci Center of Pediatric Endocrinology, Department of Public Health and Cell Biology; Tor Vergata University, Rome, Italy.
出版信息
J Endocrinol Invest. 2005 Jul-Aug;28(7):657-62. doi: 10.1007/BF03347267.
OBJECTIVE
To determine the endocrine, neuropsychological and genetic features of a child with resistance to thyroid hormone (RTH), and his response to long-term triiodothyroacetic acid (TRIAC) therapy.
METHODS
Growth, thyroid function, and neuropsychology were assessed at baseline and during 12-month TRIAC therapy. Genetic analysis was performed by PCR and denaturing high performance liquid chromatography.
RESULTS
The main clinical finding was the attention deficit-hyperactivity disorder (ADHD). A novel mutation in exon 10 (phenylalanine to isoleucine in codon 455) was found. Long-term TRIAC therapy was effective in the management of the endocrine and neuropsychological manifestations of the syndrome.
CONCLUSIONS
ADHD was the only phenotypic manifestation of this novel mutation of thyroid hormone (TH) receptor. TRIAC is an effective and safe drug in the long-term treatment of children with RTH.
目的
确定一名甲状腺激素抵抗（RTH）患儿的内分泌、神经心理学和遗传学特征，以及他对长期三碘甲状腺乙酸（TRIAC）治疗的反应。
方法
在基线时以及12个月的TRIAC治疗期间评估生长情况、甲状腺功能和神经心理学。通过聚合酶链反应（PCR）和变性高效液相色谱法进行基因分析。
结果
主要临床发现为注意力缺陷多动障碍（ADHD）。在第10外显子中发现了一个新的突变（密码子455处的苯丙氨酸变为异亮氨酸）。长期TRIAC治疗对该综合征的内分泌和神经心理学表现的管理有效。
结论
ADHD是这种甲状腺激素（TH）受体新突变的唯一表型表现。TRIAC是长期治疗RTH患儿的一种有效且安全的药物。
Zotero 插件