Elevated TSH levels in a mentally retarded boy |
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Authors: | Ellen Crushell William Reardon |
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Affiliation: | 1. National Centre for Inherited Metabolic Disorders, Children’s University Hospital and Our Lady’s Children’s Hospital, Dublin, Ireland 2. National Centre for Medical Genetics, Our Lady’s Children’s Hospital, Dublin, Ireland
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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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