Item type: | Article | ||||
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Journal or Publication Title: | The Lancet Diabetes & Endocrinology | ||||
Publisher: | Elsevier | ||||
Place of Publication: | NEW YORK | ||||
Volume: | 8 | ||||
Number of Issue or Book Chapter: | 7 | ||||
Page Range: | pp. 594-605 | ||||
Date: | 2020 | ||||
Institutions: | Medicine > Lehrstuhl für Kinder- und Jugendmedizin | ||||
Identification Number: |
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Keywords: | MONOCARBOXYLATE TRANSPORTER-8; PSYCHOMOTOR RETARDATION; HEART-RATE; HORMONE; MUTATIONS; | ||||
Dewey Decimal Classification: | 600 Technology > 610 Medical sciences Medicine | ||||
Status: | Published | ||||
Refereed: | Yes, this version has been refereed | ||||
Created at the University of Regensburg: | Yes | ||||
Item ID: | 49899 |
Abstract
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 ...
Abstract
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.
Metadata last modified: 10 Feb 2022 12:45