Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

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Groeneweg S., van Geest F. S., ABACI A., Alcantud A., Ambegaonkar G. P., Armour C. M., ...More

LANCET DIABETES & ENDOCRINOLOGY, vol.8, no.7, pp.594-605, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 8 Issue: 7
  • Publication Date: 2020
  • Doi Number: 10.1016/s2213-8587(20)30153-4
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, Food Science & Technology Abstracts, MEDLINE, Veterinary Science Database
  • Page Numbers: pp.594-605
  • Dokuz Eylül University Affiliated: Yes


Background Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic peripheral thyrotoxicosis. We sought to systematically assess the phenotypic characteristics and natural history of patients with MCT8 deficiency. p p p Interpretation Our description of characteristics of MCT8 deficiency in a large patient cohort reveals poor survival with a high prevalence of treatable underlying risk factors, and provides knowledge that might inform clinical management and future evaluation of therapies.