Article
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.
The lancet. Diabetes & endocrinology - 1 Jul 2020
Groeneweg Stefan, van Geest Ferdy S, Abacı Ayhan, Alcantud Alberto, Ambegaonkar Gautem P, Armour Christine M, Bakhtiani Priyanka, Barca Diana, Bertini Enrico S, van Beynum Ingrid M, Brunetti-Pierri Nicola, Bugiani Marianna, Cappa Marco, Cappuccio Gerarda, Castellotti Barbara, Castiglioni Claudia, Chatterjee Krishna, de Coo Irenaeus F M, Coutant Régis, Craiu Dana, Crock Patricia, DeGoede Christian, Demir Korcan, Dica Alice, Dimitri Paul, Dolcetta-Capuzzo Anna, Dremmen Marjolein H G, Dubey Rachana, Enderli Anina, Fairchild Jan, Gallichan Jonathan, George Belinda, Gevers Evelien F, Hackenberg Annette, Halász Zita, Heinrich Bianka, Huynh Tony, Kłosowska Anna, van der Knaap Marjo S, van der Knoop Marieke M, Konrad Daniel, Koolen David A, Krude Heiko, Lawson-Yuen Amy, Lebl Jan, Linder-Lucht Michaela, Lorea Cláudia F, Lourenço Charles M, Lunsing Roelineke J, Lyons Greta, Malikova Jana, Mancilla Edna E, McGowan Anne, Mericq Veronica, Lora Felipe M, Moran Carla, Müller Katalin E, Oliver-Petit Isabelle, Paone Laura, Paul Praveen G, Polak Michel, Porta Francesco, Poswar Fabiano O, Reinauer Christina, Rozenkova Klara, Menevse Tuba S, Simm Peter, Simon Anna, Singh Yogen, Spada Marco, van der Spek Jet, Stals Milou A M, Stoupa Athanasia, Subramanian Gopinath M, Tonduti Davide, Turan Serap, den Uil Corstiaan A, Vanderniet Joel, van der Walt Adri, Wémeau Jean-Louis, Wierzba Jolante, de Wit Marie-Claire Y, Wolf Nicole I, Wurm Michael, Zibordi Federica, Zung Amnon, Zwaveling-Soonawala Nitash, Visser W Edward
Abstract excerpt
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...
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