Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
Abstract
Background Disordered thyroid hormone transport, due to mutations in monocarboxylate transporter 8 (MCT8), is characterized by intellectual and motor disability due to cerebral hypothyroidism and chronic peripheral thyrotoxicosis. Phenotypic characteristics and natural history of MCT8 deficiency have not been systematically evaluated. Methods In this international, multicentre, study, retrospective data (2003 to 2019) from patients with MCT8 deficiency followed in 47 centres, was analysed. Our primary objectives were to determine neurocognitive outcomes and overall survival. We also assessed clinical parameters, including anthropometric characteristics, biochemical markers and neuroimaging findings. Results 151 subjects with 73 different MCT8 mutations were included. 21·2% (32/151) of patients died at a median age of 10·5 years (range 1·6-71·0), with main causes of mortality being pulmonary infection (18·8%) and sudden (cardiac) death (18·8%). Survival differed significantly between individuals who attained head control or not (log-rank test: p=0·002; hazard ratio 3·99 95%CI 1·89-8·76). The limited motor and cognitive abilities of patients did not improve with age. T3 concentrations were elevated in 95·1% (96/101) and total T4 concentrations were reduced in 89·5% (94/105) of patients. 71·1% (59/83) patients were underweight (<-2SD). Cardiovascular abnormalities were frequent, with 53·2% (25/47) of patients exhibiting elevated systolic blood pressure, and 75·6% (34/45) of…
How strong is the evidence?
Evidence Hub reads this as a cohort study, done in people. Its evidence level is 3 of 5 (Moderate · trial / cohort / secondary analysis). Trials without a large randomized design, cohorts and secondary analyses give moderate evidence. Reported size: 151 participants or records.
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