Severe Neurological Abnormalities in a Young Boy with Impaired Thyroid Hormone Sensitivity Due to a Novel Mutation in the MCT8 Gene
Autor(a) principal: | |
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Data de Publicação: | 2017 |
Outros Autores: | , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.17/4712 |
Resumo: | Monocarboxylate transporter 8 (MCT8) is an active and specific thyroid hormone transporter into neurons. MCT8 mutations cause an X-linked condition known as Allan-Herndon-Dudley syndrome and are characterized by impaired psychomotor development and typical abnormal thyroid function. We describe a 10-year-old boy with severe cognitive disability, axial hypotonia, spastic quadriplegia and sporadic dyskinetic episodes. He initially presented with thyroid dysfunction (high FT3, low rT3, low FT4 and normal TSH) and generalized retardation of the cerebral and cerebellar myelination in brain magnetic resonance imaging. The clinical and laboratory findings led to sequencing of the SLC16A2/MCT8 gene, which identified a novel missense mutation in exon 5. The study of peripheral markers of thyroid function suggests a paradoxical state of thyrotoxicosis in some peripheral tissues. Our patient had a typical clinical presentation at birth but because of the rarity of his disease his diagnosis was not made until the age of 7. The delay can also be explained by the omission of the free T3 assay in the first thyroid evaluation performed. This case therefore highlights the possible benefit of including the T3 assay in the study of patients with severe psychomotor disability of unknown etiology, thus eliminating extra costs for unnecessary complementary diagnostic tests. |
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Severe Neurological Abnormalities in a Young Boy with Impaired Thyroid Hormone Sensitivity Due to a Novel Mutation in the MCT8 GeneHCC ENDHumansChildMaleDevelopmental Disabilities / diagnosis*Developmental Disabilities / geneticsDyskinesias / diagnosis*Dyskinesias / geneticsIntellectual Disability / diagnosis*Intellectual Disability / geneticsMental Retardation, X-Linked / diagnosis*Mental Retardation, X-Linked / geneticsMonocarboxylic Acid Transporters / genetics*Muscle Hypotonia / diagnosis*Muscle Hypotonia / geneticsMuscular Atrophy / diagnosis*Muscular Atrophy / geneticsMutation, MissenseQuadriplegia / diagnosis*Quadriplegia / geneticsSymportersThyrotoxicosis / diagnosis*Thyrotoxicosis / geneticsMonocarboxylate transporter 8 (MCT8) is an active and specific thyroid hormone transporter into neurons. MCT8 mutations cause an X-linked condition known as Allan-Herndon-Dudley syndrome and are characterized by impaired psychomotor development and typical abnormal thyroid function. We describe a 10-year-old boy with severe cognitive disability, axial hypotonia, spastic quadriplegia and sporadic dyskinetic episodes. He initially presented with thyroid dysfunction (high FT3, low rT3, low FT4 and normal TSH) and generalized retardation of the cerebral and cerebellar myelination in brain magnetic resonance imaging. The clinical and laboratory findings led to sequencing of the SLC16A2/MCT8 gene, which identified a novel missense mutation in exon 5. The study of peripheral markers of thyroid function suggests a paradoxical state of thyrotoxicosis in some peripheral tissues. Our patient had a typical clinical presentation at birth but because of the rarity of his disease his diagnosis was not made until the age of 7. The delay can also be explained by the omission of the free T3 assay in the first thyroid evaluation performed. This case therefore highlights the possible benefit of including the T3 assay in the study of patients with severe psychomotor disability of unknown etiology, thus eliminating extra costs for unnecessary complementary diagnostic tests.SpringerRepositório do Centro Hospitalar Universitário de Lisboa Central, EPERego, TGomez Lado, CCabanas Rodríguez, PSousa Santos, FBarros Angueira, FCastro-Feijóo, LBarreiro Conde, JCastro-Gago, M2023-10-06T14:53:27Z2017-042017-04-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.17/4712engHormones (Athens) . 2017 Apr;16(2):194-199.10.14310/horm.2002.1733.info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-10-08T06:31:40Zoai:repositorio.chlc.min-saude.pt:10400.17/4712Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:33:58.345555Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Severe Neurological Abnormalities in a Young Boy with Impaired Thyroid Hormone Sensitivity Due to a Novel Mutation in the MCT8 Gene |
title |
Severe Neurological Abnormalities in a Young Boy with Impaired Thyroid Hormone Sensitivity Due to a Novel Mutation in the MCT8 Gene |
spellingShingle |
Severe Neurological Abnormalities in a Young Boy with Impaired Thyroid Hormone Sensitivity Due to a Novel Mutation in the MCT8 Gene Rego, T HCC END Humans Child Male Developmental Disabilities / diagnosis* Developmental Disabilities / genetics Dyskinesias / diagnosis* Dyskinesias / genetics Intellectual Disability / diagnosis* Intellectual Disability / genetics Mental Retardation, X-Linked / diagnosis* Mental Retardation, X-Linked / genetics Monocarboxylic Acid Transporters / genetics* Muscle Hypotonia / diagnosis* Muscle Hypotonia / genetics Muscular Atrophy / diagnosis* Muscular Atrophy / genetics Mutation, Missense Quadriplegia / diagnosis* Quadriplegia / genetics Symporters Thyrotoxicosis / diagnosis* Thyrotoxicosis / genetics |
title_short |
Severe Neurological Abnormalities in a Young Boy with Impaired Thyroid Hormone Sensitivity Due to a Novel Mutation in the MCT8 Gene |
title_full |
Severe Neurological Abnormalities in a Young Boy with Impaired Thyroid Hormone Sensitivity Due to a Novel Mutation in the MCT8 Gene |
title_fullStr |
Severe Neurological Abnormalities in a Young Boy with Impaired Thyroid Hormone Sensitivity Due to a Novel Mutation in the MCT8 Gene |
title_full_unstemmed |
Severe Neurological Abnormalities in a Young Boy with Impaired Thyroid Hormone Sensitivity Due to a Novel Mutation in the MCT8 Gene |
title_sort |
Severe Neurological Abnormalities in a Young Boy with Impaired Thyroid Hormone Sensitivity Due to a Novel Mutation in the MCT8 Gene |
author |
Rego, T |
author_facet |
Rego, T Gomez Lado, C Cabanas Rodríguez, P Sousa Santos, F Barros Angueira, F Castro-Feijóo, L Barreiro Conde, J Castro-Gago, M |
author_role |
author |
author2 |
Gomez Lado, C Cabanas Rodríguez, P Sousa Santos, F Barros Angueira, F Castro-Feijóo, L Barreiro Conde, J Castro-Gago, M |
author2_role |
author author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE |
dc.contributor.author.fl_str_mv |
Rego, T Gomez Lado, C Cabanas Rodríguez, P Sousa Santos, F Barros Angueira, F Castro-Feijóo, L Barreiro Conde, J Castro-Gago, M |
dc.subject.por.fl_str_mv |
HCC END Humans Child Male Developmental Disabilities / diagnosis* Developmental Disabilities / genetics Dyskinesias / diagnosis* Dyskinesias / genetics Intellectual Disability / diagnosis* Intellectual Disability / genetics Mental Retardation, X-Linked / diagnosis* Mental Retardation, X-Linked / genetics Monocarboxylic Acid Transporters / genetics* Muscle Hypotonia / diagnosis* Muscle Hypotonia / genetics Muscular Atrophy / diagnosis* Muscular Atrophy / genetics Mutation, Missense Quadriplegia / diagnosis* Quadriplegia / genetics Symporters Thyrotoxicosis / diagnosis* Thyrotoxicosis / genetics |
topic |
HCC END Humans Child Male Developmental Disabilities / diagnosis* Developmental Disabilities / genetics Dyskinesias / diagnosis* Dyskinesias / genetics Intellectual Disability / diagnosis* Intellectual Disability / genetics Mental Retardation, X-Linked / diagnosis* Mental Retardation, X-Linked / genetics Monocarboxylic Acid Transporters / genetics* Muscle Hypotonia / diagnosis* Muscle Hypotonia / genetics Muscular Atrophy / diagnosis* Muscular Atrophy / genetics Mutation, Missense Quadriplegia / diagnosis* Quadriplegia / genetics Symporters Thyrotoxicosis / diagnosis* Thyrotoxicosis / genetics |
description |
Monocarboxylate transporter 8 (MCT8) is an active and specific thyroid hormone transporter into neurons. MCT8 mutations cause an X-linked condition known as Allan-Herndon-Dudley syndrome and are characterized by impaired psychomotor development and typical abnormal thyroid function. We describe a 10-year-old boy with severe cognitive disability, axial hypotonia, spastic quadriplegia and sporadic dyskinetic episodes. He initially presented with thyroid dysfunction (high FT3, low rT3, low FT4 and normal TSH) and generalized retardation of the cerebral and cerebellar myelination in brain magnetic resonance imaging. The clinical and laboratory findings led to sequencing of the SLC16A2/MCT8 gene, which identified a novel missense mutation in exon 5. The study of peripheral markers of thyroid function suggests a paradoxical state of thyrotoxicosis in some peripheral tissues. Our patient had a typical clinical presentation at birth but because of the rarity of his disease his diagnosis was not made until the age of 7. The delay can also be explained by the omission of the free T3 assay in the first thyroid evaluation performed. This case therefore highlights the possible benefit of including the T3 assay in the study of patients with severe psychomotor disability of unknown etiology, thus eliminating extra costs for unnecessary complementary diagnostic tests. |
publishDate |
2017 |
dc.date.none.fl_str_mv |
2017-04 2017-04-01T00:00:00Z 2023-10-06T14:53:27Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.17/4712 |
url |
http://hdl.handle.net/10400.17/4712 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Hormones (Athens) . 2017 Apr;16(2):194-199. 10.14310/horm.2002.1733. |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
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application/pdf |
dc.publisher.none.fl_str_mv |
Springer |
publisher.none.fl_str_mv |
Springer |
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reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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