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Elevated TSH levels in a mentally retarded boy

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Abstract

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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Fig. 1

Abbreviations

T3:

Triiodothyronine

T4:

Thyroxine

TSH:

Thyroid stimulating hormone

MCT 8 :

Monocarboxylate transporter 8

AHDS:

Allan–Herndon–Dudley syndrome

References

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    Dumitrescu AM, Liao XH, Weiss RE et al (2006) Tissue specific thyroid hormone deprivation and excess in monocarbosylate transporter (MCT) 8-deficient mice. Endocrinology 147:4036–43

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    Friesema ECH, Grueters A, Biebermann H et al (2004) Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. Lancet 364:1435–1437

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    Herezovich V, Vaiani E, Marino R et al (2007) Unexpected peripheral markers of thyroid function in a patient with a novel mutation of the MCT8 thyroid hormone transporter gene. Horm Res 67:1–6

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    Schwartz CE, May MM, Carpenter NJ et al (2005) Allan Herndon Dudley Syndrome and the monocarboxylate transporter 8 (MCT8) gene. Am J Hum Genet 77:41–53

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Conflict of interest

There is no conflict of interest. No funding was required for this study.

Author information

Correspondence to William Reardon.

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Crushell, E., Reardon, W. Elevated TSH levels in a mentally retarded boy. Eur J Pediatr 169, 573–575 (2010). https://doi.org/10.1007/s00431-009-1075-0

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Keywords

  • Triiodothyronine
  • Hypothyroidism
  • Allan–Herndon–Dudley syndrome
  • X-linked mental retardation
  • MCT 8