Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study: The Lancet Diabetes and Endocrinology

S. Groeneweg, F.S. van Geest, A. Abacı, A. Alcantud, G.P. Ambegaonkar, C.M. Armour, P. Bakhtiani, D. Barca, E.S. Bertini, I.M. van Beynum, N. Brunetti-Pierri, M. Bugiani, M. Cappa, G. Cappuccio, B. Castellotti, C. Castiglioni, K. Chatterjee, I.F.M. de Coo, R. Coutant, D. CraiuP. Crock, C. DeGoede, K. Demir, A. Dica, P. Dimitri, A. Dolcetta-Capuzzo, M.H.G. Dremmen, R. Dubey, A. Enderli, J. Fairchild, J. Gallichan, B. George, E.F. Gevers, A. Hackenberg, Z. Halász, B. Heinrich, T. Huynh, A. Kłosowska, M.S. van der Knaap, M.M. van der Knoop, D. Konrad, D.A. Koolen, H. Krude, A. Lawson-Yuen, J. Lebl, M. Linder-Lucht, C.F. Lorea, C.M. Lourenço, R.J. Lunsing, G. Lyons, J. Malikova, E.E. Mancilla, A. McGowan, V. Mericq, F.M. Lora, C. Moran, K.E. Müller, I. Oliver-Petit, L. Paone, P.G. Paul, M. Polak, F. Porta, F.O. Poswar, C. Reinauer, K. Rozenkova, T.S. Menevse, P. Simm, A. Simon, Y. Singh, M. Spada, J. van der Spek, M.A.M. Stals, A. Stoupa, G.M. Subramanian, D. Tonduti, S. Turan, C.A. den Uil, J. Vanderniet, A. van der Walt, J.-L. Wémeau, J. Wierzba, M.-C.Y. de Wit, N.I. Wolf, M. Wurm, F. Zibordi, A. Zung, N. Zwaveling-Soonawala, W.E. Visser

Research output: Contribution to journalArticlepeer-review


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. Methods: We did an international, multicentre, cohort study, analysing retrospective data from Jan 1, 2003, to Dec 31, 2019, from patients with MCT8 deficiency followed up in 47 hospitals in 22 countries globally. The key inclusion criterion was genetically confirmed MCT8 deficiency. There were no exclusion criteria. Our primary objective was to analyse the overall survival of patients with MCT8 deficiency and document causes of death. We also compared survival between patients who did or did not attain full head control by age 1·5 years and between patients who were or were not underweight by age 1–3 years (defined as a bodyweight-for-age Z score
Original languageEnglish
Pages (from-to)594-605
Number of pages12
JournalLancet Diabetes Endocrinol.
Issue number7
Publication statusPublished - 2020
Externally publishedYes


  • monocarboxylate transporter 8
  • thyroxine
  • biological marker
  • cotransporter
  • monocarboxylate transporter
  • SLC16A2 protein, human
  • anthropometry
  • Article
  • Bayley Scales of Infant Development
  • biochemical analysis
  • child
  • clinical outcome
  • cognition
  • cohort analysis
  • controlled study
  • death
  • female
  • gene mutation
  • Gross Motor Function Measure
  • Gross Motor Function Measure 88
  • human
  • hypothyroidism
  • lung infection
  • major clinical study
  • male
  • median survival time
  • monocarboxylate transporter 8 deficiency
  • mortality rate
  • mortality risk
  • motor performance
  • neuroimaging
  • nuclear magnetic resonance imaging
  • overall survival
  • priority journal
  • retrospective study
  • supraventricular premature beat
  • systolic blood pressure
  • tachycardia
  • thyrotoxicosis
  • adolescent
  • adult
  • aged
  • clinical trial
  • follow up
  • genetics
  • infant
  • international cooperation
  • mental disease
  • middle aged
  • multicenter study
  • muscle disease
  • mutation
  • pathology
  • preschool child
  • prognosis
  • survival rate
  • young adult
  • Adolescent
  • Adult
  • Aged
  • Biomarkers
  • Child
  • Child, Preschool
  • Female
  • Follow-Up Studies
  • Humans
  • Infant
  • International Agencies
  • Male
  • Mental Disorders
  • Middle Aged
  • Monocarboxylic Acid Transporters
  • Muscular Diseases
  • Mutation
  • Neurodevelopmental Disorders
  • Prognosis
  • Retrospective Studies
  • Survival Rate
  • Symporters
  • Young Adult


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