European Journal of Pediatrics

, Volume 169, Issue 5, pp 573–575

Elevated TSH levels in a mentally retarded boy

Original Paper

DOI: 10.1007/s00431-009-1075-0

Cite this article as:
Crushell, E. & Reardon, W. Eur J Pediatr (2010) 169: 573. doi:10.1007/s00431-009-1075-0

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.

Keywords

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

Abbreviations

T3

Triiodothyronine

T4

Thyroxine

TSH

Thyroid stimulating hormone

MCT 8

Monocarboxylate transporter 8

AHDS

Allan–Herndon–Dudley syndrome

Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  1. 1.National Centre for Inherited Metabolic DisordersChildren’s University Hospital and Our Lady’s Children’s HospitalDublinIreland
  2. 2.National Centre for Medical GeneticsOur Lady’s Children’s HospitalDublinIreland

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