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Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
S. Groeneweg, FS. van Geest, A. Abacı, A. Alcantud, GP. Ambegaonkar, CM. Armour, P. Bakhtiani, D. Barca, ES. Bertini, IM. van Beynum, N. Brunetti-Pierri, M. Bugiani, M. Cappa, G. Cappuccio, B. Castellotti, C. Castiglioni, K. Chatterjee, IFM. de...
Language English Country Great Britain
Document type Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't
- MeSH
- Biomarkers analysis MeSH
- Child MeSH
- Adult MeSH
- Mental Disorders etiology pathology MeSH
- Infant MeSH
- Middle Aged MeSH
- Humans MeSH
- International Agencies MeSH
- Survival Rate MeSH
- Adolescent MeSH
- Young Adult MeSH
- Mutation MeSH
- Follow-Up Studies MeSH
- Muscular Diseases etiology pathology MeSH
- Neurodevelopmental Disorders etiology pathology MeSH
- Child, Preschool MeSH
- Monocarboxylic Acid Transporters deficiency genetics MeSH
- Prognosis MeSH
- Retrospective Studies MeSH
- Aged MeSH
- Symporters deficiency genetics MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Infant MeSH
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Male MeSH
- Child, Preschool MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Multicenter Study MeSH
- Research Support, Non-U.S. Gov't MeSH
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 <-2 SDs or <5th percentile according to WHO definition). Other objectives were to assess neurocognitive function and outcomes, and clinical parameters including anthropometric characteristics, biochemical markers, and neuroimaging findings. FINDINGS: Between Oct 14, 2014, and Jan 17, 2020, we enrolled 151 patients with 73 different MCT8 (SLC16A2) mutations. Median age at diagnosis was 24·0 months (IQR 12·0-60·0, range 0·0-744·0). 32 (21%) of 151 patients died; the main causes of mortality in these patients were pulmonary infection (six [19%]) and sudden death (six [19%]). Median overall survival was 35·0 years (95% CI 8·3-61·7). Individuals who did not attain head control by age 1·5 years had an increased risk of death compared with patients who did attain head control (hazard ratio [HR] 3·46, 95% CI 1·76-8·34; log-rank test p=0·0041). Patients who were underweight during age 1-3 years had an increased risk for death compared with patients who were of normal bodyweight at this age (HR 4·71, 95% CI 1·26-17·58, p=0·021). The few motor and cognitive abilities of patients did not improve with age, as evidenced by the absence of significant correlations between biological age and scores on the Gross Motor Function Measure-88 and Bayley Scales of Infant Development III. Tri-iodothyronine concentrations were above the age-specific upper limit in 96 (95%) of 101 patients and free thyroxine concentrations were below the age-specific lower limit in 94 (89%) of 106 patients. 59 (71%) of 83 patients were underweight. 25 (53%) of 47 patients had elevated systolic blood pressure above the 90th percentile, 34 (76%) of 45 patients had premature atrial contractions, and 20 (31%) of 64 had resting tachycardia. The most consistent MRI finding was a global delay in myelination, which occurred in 13 (100%) of 13 patients. 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. FUNDING: Netherlands Organisation for Health Research and Development, and the Sherman Foundation.
Centre for Endocrinology William Harvey Research institute Queen Mary University London London UK
Child Neurology Unit Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy
Departamento de Neurologia Pediatrica Clinica Las Condes Santiago Chile
Department of Cardiology and Intensive Care Medicine Erasmus Medical Centre Rotterdam Netherlands
Department of Chemical Pathology Mater Pathology South Brisbane QLD Australia
Department of Diabetes and Endocrinology Women's and Children's Hospital North Adelaide SA Australia
Department of Endocrinology and Diabetes Queensland Children's Hospital South Brisbane QLD Australia
Department of Endocrinology St John's Medical College Hospital Bengaluru Karnataka India
Department of Neuropediatrics University Children's Hospital Zurich Zürich Switzerland
Department of Paediatric Neurology Erasmus Medical Centre Rotterdam Netherlands
Department of Paediatrics Christian Medical College Vellore India
Department of Paediatrics Semmelweis University Budapest Hungary
Department of Pediatric Endocrinology and Diabetology University Hospital Angers France
Department of Pediatrics Clinica Las Condes Santiago Chile
Department of Translational Medicine Federico 2 University Naples Italy
Dept of Paediatric Endocrinology Barts Health NHS Trust London UK
Division of Endocrinology Bambino Gesu' Children's Research Hospital IRCCS Rome Italy
Division of Paediatric Radiology Erasmus Medical Centre Rotterdam Netherlands
Division of Pediatric Endocrinology Faculty of Medicine Dokuz Eylul University İzmir Turkey
Faculdade de Medicina Centro Universitario Estácio de Ribeirão Preto Ribeirão Preto Brazil
Faculty of Medicine University of Queensland Brisbane QLD Australia
Genomics Institute Mary Bridge Children's Hospital MultiCare Health System Tacoma WA USA
Hebrew University of Jerusalem Jerusalem Israel
Institute of Maternal and Child Research University of Chile Santiago Chile
John Hunter Children's Hospital and University of Newcastle Newcastle NSW Australia
KUNO Children's University Hospital Campus St Hedwig University of Regensburg Regensburg Germany
Lancashire Teaching Hospitals NHS Trust Lancashire UK
Marmara University School of Medicine Department of Pediatric Endocrinology Istanbul Turkey
Medanta Superspeciality Hospital Indore India
Medical Genetics Service Hospital de Clínicas de Porto Alegre Porto Alegre Brazil
Paediatric Endocrinology Unit Kaplan Medical Center Rehovot Israel
Paediatric Neurology Clinic Alexandru Obregia Hospital Bucharest Romania
Panorama Medical Centre Cape Town South Africa
Pediatric Endocrinology Group Santa Catarina Hospital São Paulo Brazil
Pediatric Neurology Section Hospital Francesc de Borja de Gandia Valencia Spain
Plymouth Hospitals NHS Trust Plymouth UK
Royal Children's Hospital Parkville Melbourne VIC Australia
Teaching Hospital of Universidade Federal de Pelotas Pelotas Brazil
Telethon Institute of Genetics and Medicine Pozzuoli Naples Italy
Università Vita Salute San Raffaele Milan Italy
University of Debrecen Pediatric Institute Debrecen Hungary
University of Lille Lille France
References provided by Crossref.org
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- $a ok $b bmc $g 1599074 $s 1115615
- BAS __
- $a 3
- BAS __
- $a PreBMC
- BMC __
- $a 2020 $b 8 $c 7 $d 594-605 $e - $i 2213-8595 $m The lancet. Diabetes & endocrinology $n Lancet Diabetes Endocrinol $x MED00186388
- LZP __
- $a Pubmed-20201125
