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Case Reports
. 2025 Jun;92(6):635-636.
doi: 10.1007/s12098-025-05507-9. Epub 2025 Mar 25.

Allan-Herndon-Dudley Syndrome

Sayantan Chakraborty  1 , Debaditya Das  2
Affiliations
Case Reports

Allan-Herndon-Dudley Syndrome

Sayantan Chakraborty et al. Indian J Pediatr. 2025 Jun.

Abstract

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.

Keywords: Developmental Delay; Emcitate; MCT8; Tiratricol.

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Conflict of interest statement

Declarations. Conflict of Interest: None.

References

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