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Article

Psychomotor retardation caused by a defective thyroid hormone transporter: report of two families with different MCT8 mutations.

Hormone research in paediatrics - 1 Jan 2014

Anık Ahmet, Kersseboom Simone, Demir Korcan, Catlı Gönül, Yiş Uluç, Böber Ece, van Mullem Alies, van Herebeek Ramona E A, Hız Semra, Abacı Ayhan, Visser Theo J

Abstract excerpt

BACKGROUND/AIMS: Monocarboxylate transporter 8 (MCT8) is essential for thyroid hormone (TH) transport in the brain. Mutations in MCT8 are associated with the Allan-Herndon-Dudley syndrome (AHDS), characterized by severe psychomotor retardation and altered serum thyroid parameters. Here we report two novel mutations in MCT8 and discuss the clinical findings. CASE REPORT AND RESULTS: We describe 4 males with AHDS...

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Identifiers

PMID: 25247785
DOI: 10.1159/000365191

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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