article · Journal of Pediatric Endocrinology and Metabolism
This case highlights the diagnostic value of the T3/T4 ratio (>0.75 pmol/pmol) as an essential biochemical marker of AHDS in any male infant presenting with unexplained developmental delay and hypotonia. A systematic diagnostic approach including early T3 measurement and T3/T4 ratio calculation should be applied in the initial evaluation of severe developmental delays, even in the presence of normal brain MRI findings, to avoid diagnostic delays in AHDS.
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DOI: 10.1515/jpem-2025-0446
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