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