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<p>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.</p>

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Allan-Herndon-Dudley Syndrome

  • 期刊论文

  • 发表日期：

    2025年3月25日

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  • Sayantan Chakraborty,
  • Debaditya Das

摘要

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.