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Eur J Pediatr. 2010 May;169(5):573-5. doi: 10.1007/s00431-009-1075-0.

Elevated TSH levels in a mentally retarded boy.

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National Centre for Inherited Metabolic Disorders, Children's University Hospital and Our Lady's Children's Hospital, Dublin, Ireland.


The Allan-Herndon-Dudley syndrome (AHDS;MIM 300523) of X-linked mental retardation and hypotonia is caused by mutations in a thyroid hormone transporter gene--the monocarboxylate transporter 8 (MCT8 also known as SLC16A2) gene. A 23-month-old boy with severe developmental delay, hypotonia, recurrent emesis, and irritability is described. He was diagnosed with hypothyroidism at the age of 4 months. However, T3 level was elevated. Molecular analysis of the MCT8 gene detected a single base duplication in exon 5 c.1614dupC (p.Ile539fs), consistent with a diagnosis of AHDS. While T3 is the best marker for this disorder, elevations in TSH should alert to the diagnosis.

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