Allan-Herndon-Dudley综合症。

IF 2.1 4区医学 Q2 PEDIATRICS

Indian Journal of Pediatrics Pub Date : 2025-06-01 Epub Date: 2025-03-25 DOI:10.1007/s12098-025-05507-9

Sayantan Chakraborty, Debaditya Das

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引用次数: 0

摘要

x连锁的MCT 8突变导致Allan-Herndon-Dudley综合征（AHDS），其特征是严重的发育迟缓和特异性甲状腺功能异常。该报告描述了一个2岁的男孩，他表现出严重的发育迟缓，全面性张力低下和甲状腺功能异常（FT3高，FT4低，TSH正常），提示一种形式的甲状腺激素敏感性受损。全外显子测序（WES）分析显示mct8基因外显子3突变。应用三碘乙酸可改善甲状腺毒症的神经发育迟缓和临床生化特征。

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Allan-Herndon-Dudley Syndrome.

X-linked MCT 8 mutations cause Allan-Herndon-Dudley syndrome (AHDS), characterized by severe developmental delay and specific thyroid function abnormality. The report describes a 2-y-old boy who presented with severe developmental delay, generalized hypotonia and thyroid function abnormality (high FT3, low FT4 and normal TSH) suggesting a form of impaired thyroid hormone sensitivity. Whole exome sequencing (WES) analysis revealed mutation in exon 3 of MCT 8 gene. Improvement of neurodevelopmental delay and clinical and biochemical features of thyrotoxicosis occurs with use of tri iodoacetic acid.

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来源期刊

Indian Journal of Pediatrics 医学-小儿科

CiteScore

8.10

自引率

7.00%

发文量

394

审稿时长

3-6 weeks

期刊介绍： Indian Journal of Pediatrics (IJP), is an ofﬁcial publication of the Dr. K.C. Chaudhuri Foundation. The Journal, a peer-reviewed publication, is published twelve times a year on a monthly basis (January, February, March, April, May, June, July, August, September, October, November, December), and publishes clinical and basic research of all aspects of pediatrics, provided they have scientific merit and represent an important advance in knowledge. The Journal publishes original articles, review articles, case reports which provide new information, letters in relation to published articles, scientific research letters and picture of the month, announcements (meetings, courses, job advertisements); summary report of conferences and book reviews.