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Article

Allan-Herndon-Dudley Syndrome.

Indian journal of pediatrics - 1 Jun 2025

Chakraborty Sayantan, Das Debaditya

Abstract excerpt

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)...

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Identifiers

PMID: 40131620
DOI: 10.1007/s12098-025-05507-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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