Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Stefan Groeneweg; Ferdy S. van Geest; Ayhan Abaci; Alberto Alcantud; Gautem P. Ambegaonkar; Christine M. Armour; Priyanka Bakhtiani; Diana Barca; Enrico S. Bertini; Ingrid M. van Beynum; Nicola Brunetti-Pierri; Marianna Bugiani; Marco Cappa; Gerarda Cappuccio; Barbara Castellotti; Claudia Castiglioni; Krishna Chatterjee; Irenaeus F. M. de Coo; Regis Coutant; Dana Craiu; Patricia Crock; Christian DeGoede; Korcan Demir; Alice Dica; Paul Dimitri; Anna Dolcetta-Capuzzo; Marjolein H. G. Dremmen; Rachana Dubey; Anina Enderli; Jan Fairchild; Jonathan Gallichan; Belinda George; Evelien F. Gevers; Annette Hackenberg; Zita Halasz; Bianka Heinrich; Tony Huynh; Anna Klosowska; Marjo S. van der Knaap; Marieke M. van der Knoop; Daniel Konrad; David A. Koolen; Heiko Krude; Amy Lawson-Yuen; Jan Lebl; Michaela Linder-Lucht; Claudia F. Lorea; Charles M. Lourenco; Roelineke J. Lunsing; Greta Lyons

doi:10.1016/S2213-8587(20)30153-4

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Stefan Groeneweg, Ferdy S. van Geest, Ayhan Abaci, Alberto Alcantud, Gautem P. Ambegaonkar, Christine M. Armour, Priyanka Bakhtiani, Diana Barca, Enrico S. Bertini, Ingrid M. van Beynum, Nicola Brunetti-Pierri, Marianna Bugiani, Marco Cappa, Gerarda Cappuccio, Barbara Castellotti, Claudia Castiglioni, Krishna Chatterjee, Irenaeus F. M. de Coo, Regis Coutant, Dana CraiuPatricia Crock, Christian DeGoede, Korcan Demir, Alice Dica, Paul Dimitri, Anna Dolcetta-Capuzzo, Marjolein H. G. Dremmen, Rachana Dubey, Anina Enderli, Jan Fairchild, Jonathan Gallichan, Belinda George, Evelien F. Gevers, Annette Hackenberg, Zita Halasz, Bianka Heinrich, Tony Huynh, Anna Klosowska, Marjo S. van der Knaap, Marieke M. van der Knoop, Daniel Konrad, David A. Koolen, Heiko Krude, Amy Lawson-Yuen, Jan Lebl, Michaela Linder-Lucht, Claudia F. Lorea, Charles M. Lourenco, Roelineke J. Lunsing, Greta Lyons

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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.

Originele taal-2	English
Pagina's (van-tot)	594-605
Aantal pagina's	12
Tijdschrift	Lancet Diabetes & Endocrinology
Volume	8
Nummer van het tijdschrift	7
DOI's	https://doi.org/10.1016/S2213-8587(20)30153-4
Status	Published - jul.-2020

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Groeneweg, S., van Geest, F. S., Abaci, A., Alcantud, A., Ambegaonkar, G. P., Armour, C. M., Bakhtiani, P., Barca, D., Bertini, E. S., van Beynum, I. M., Brunetti-Pierri, N., Bugiani, M., Cappa, M., Cappuccio, G., Castellotti, B., Castiglioni, C., Chatterjee, K., de Coo, I. F. M., Coutant, R., ... Lyons, G. (2020). Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study. Lancet Diabetes & Endocrinology, 8(7), 594-605. https://doi.org/10.1016/S2213-8587(20)30153-4

@article{9f9db06623924421bb150b934ad2c166,

title = "Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study",

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.",

keywords = "MONOCARBOXYLATE TRANSPORTER-8, PSYCHOMOTOR RETARDATION, HEART-RATE, HORMONE, MUTATIONS",

author = "Stefan Groeneweg and {van Geest}, {Ferdy S.} and Ayhan Abaci and Alberto Alcantud and Ambegaonkar, {Gautem P.} and Armour, {Christine M.} and Priyanka Bakhtiani and Diana Barca and Bertini, {Enrico S.} and {van Beynum}, {Ingrid M.} and Nicola Brunetti-Pierri and Marianna Bugiani and Marco Cappa and Gerarda Cappuccio and Barbara Castellotti and Claudia Castiglioni and Krishna Chatterjee and {de Coo}, {Irenaeus F. M.} and Regis Coutant and Dana Craiu and Patricia Crock and Christian DeGoede and Korcan Demir and Alice Dica and Paul Dimitri and Anna Dolcetta-Capuzzo and Dremmen, {Marjolein H. G.} and Rachana Dubey and Anina Enderli and Jan Fairchild and Jonathan Gallichan and Belinda George and Gevers, {Evelien F.} and Annette Hackenberg and Zita Halasz and Bianka Heinrich and Tony Huynh and Anna Klosowska and {van der Knaap}, {Marjo S.} and {van der Knoop}, {Marieke M.} and Daniel Konrad and Koolen, {David A.} and Heiko Krude and Amy Lawson-Yuen and Jan Lebl and Michaela Linder-Lucht and Lorea, {Claudia F.} and Lourenco, {Charles M.} and Lunsing, {Roelineke J.} and Greta Lyons",

year = "2020",

month = jul,

doi = "10.1016/S2213-8587(20)30153-4",

language = "English",

volume = "8",

pages = "594--605",

journal = "Lancet Diabetes & Endocrinology",

issn = "2213-8587",

publisher = "ELSEVIER SCIENCE INC",

number = "7",

}

Groeneweg, S, van Geest, FS, Abaci, A, Alcantud, A, Ambegaonkar, GP, Armour, CM, Bakhtiani, P, Barca, D, Bertini, ES, van Beynum, IM, Brunetti-Pierri, N, Bugiani, M, Cappa, M, Cappuccio, G, Castellotti, B, Castiglioni, C, Chatterjee, K, de Coo, IFM, Coutant, R, Craiu, D, Crock, P, DeGoede, C, Demir, K, Dica, A, Dimitri, P, Dolcetta-Capuzzo, A, Dremmen, MHG, Dubey, R, Enderli, A, Fairchild, J, Gallichan, J, George, B, Gevers, EF, Hackenberg, A, Halasz, Z, Heinrich, B, Huynh, T, Klosowska, A, van der Knaap, MS, van der Knoop, MM, Konrad, D, Koolen, DA, Krude, H, Lawson-Yuen, A, Lebl, J, Linder-Lucht, M, Lorea, CF, Lourenco, CM, Lunsing, RJ & Lyons, G 2020, 'Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study', Lancet Diabetes & Endocrinology, vol. 8, nr. 7, blz. 594-605. https://doi.org/10.1016/S2213-8587(20)30153-4

TY - JOUR

T1 - Disease characteristics of MCT8 deficiency

T2 - an international, retrospective, multicentre cohort study

AU - Groeneweg, Stefan

AU - van Geest, Ferdy S.

AU - Abaci, Ayhan

AU - Alcantud, Alberto

AU - Ambegaonkar, Gautem P.

AU - Armour, Christine M.

AU - Bakhtiani, Priyanka

AU - Barca, Diana

AU - Bertini, Enrico S.

AU - van Beynum, Ingrid M.

AU - Brunetti-Pierri, Nicola

AU - Bugiani, Marianna

AU - Cappa, Marco

AU - Cappuccio, Gerarda

AU - Castellotti, Barbara

AU - Castiglioni, Claudia

AU - Chatterjee, Krishna

AU - de Coo, Irenaeus F. M.

AU - Coutant, Regis

AU - Craiu, Dana

AU - Crock, Patricia

AU - DeGoede, Christian

AU - Demir, Korcan

AU - Dica, Alice

AU - Dimitri, Paul

AU - Dolcetta-Capuzzo, Anna

AU - Dremmen, Marjolein H. G.

AU - Dubey, Rachana

AU - Enderli, Anina

AU - Fairchild, Jan

AU - Gallichan, Jonathan

AU - George, Belinda

AU - Gevers, Evelien F.

AU - Hackenberg, Annette

AU - Halasz, Zita

AU - Heinrich, Bianka

AU - Huynh, Tony

AU - Klosowska, Anna

AU - van der Knaap, Marjo S.

AU - van der Knoop, Marieke M.

AU - Konrad, Daniel

AU - Koolen, David A.

AU - Krude, Heiko

AU - Lawson-Yuen, Amy

AU - Lebl, Jan

AU - Linder-Lucht, Michaela

AU - Lorea, Claudia F.

AU - Lourenco, Charles M.

AU - Lunsing, Roelineke J.

AU - Lyons, Greta

PY - 2020/7

Y1 - 2020/7

N2 - 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.

AB - 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.

KW - MONOCARBOXYLATE TRANSPORTER-8

KW - PSYCHOMOTOR RETARDATION

KW - HEART-RATE

KW - HORMONE

KW - MUTATIONS

U2 - 10.1016/S2213-8587(20)30153-4

DO - 10.1016/S2213-8587(20)30153-4

M3 - Article

SN - 2213-8587

VL - 8

SP - 594

EP - 605

JO - Lancet Diabetes & Endocrinology

JF - Lancet Diabetes & Endocrinology

IS - 7

ER -

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

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