Repository logo
 
Publication

Severe Neurological Abnormalities in a Young Boy with Impaired Thyroid Hormone Sensitivity Due to a Novel Mutation in the MCT8 Gene

2017-04Journal article Open access
Simple item page
dc.contributor.authorRego, T
dc.contributor.authorGomez Lado, C
dc.contributor.authorCabanas Rodríguez, P
dc.contributor.authorSousa Santos, F
dc.contributor.authorBarros Angueira, F
dc.contributor.authorCastro-Feijóo, L
dc.contributor.authorBarreiro Conde, J
dc.contributor.authorCastro-Gago, M
dc.date.accessioned2023-10-06T14:53:27Z
dc.date.available2023-10-06T14:53:27Z
dc.date.issued2017-04
dc.description.abstractMonocarboxylate 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.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationHormones (Athens) . 2017 Apr;16(2):194-199.pt_PT
dc.identifier.doi10.14310/horm.2002.1733.pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/4712
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringerpt_PT
dc.subjectHCC ENDpt_PT
dc.subjectHumanspt_PT
dc.subjectChildpt_PT
dc.subjectMalept_PT
dc.subjectDevelopmental Disabilities / diagnosis*pt_PT
dc.subjectDevelopmental Disabilities / geneticspt_PT
dc.subjectDyskinesias / diagnosis*pt_PT
dc.subjectDyskinesias / geneticspt_PT
dc.subjectIntellectual Disability / diagnosis*pt_PT
dc.subjectIntellectual Disability / geneticspt_PT
dc.subjectMental Retardation, X-Linked / diagnosis*pt_PT
dc.subjectMental Retardation, X-Linked / geneticspt_PT
dc.subjectMonocarboxylic Acid Transporters / genetics*pt_PT
dc.subjectMuscle Hypotonia / diagnosis*pt_PT
dc.subjectMuscle Hypotonia / geneticspt_PT
dc.subjectMuscular Atrophy / diagnosis*pt_PT
dc.subjectMuscular Atrophy / geneticspt_PT
dc.subjectMutation, Missensept_PT
dc.subjectQuadriplegia / diagnosis*pt_PT
dc.subjectQuadriplegia / geneticspt_PT
dc.subjectSymporterspt_PT
dc.subjectThyrotoxicosis / diagnosis*pt_PT
dc.subjectThyrotoxicosis / geneticspt_PT
dc.titleSevere Neurological Abnormalities in a Young Boy with Impaired Thyroid Hormone Sensitivity Due to a Novel Mutation in the MCT8 Genept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage199pt_PT
oaire.citation.startPage194pt_PT
oaire.citation.titleHormones (Athens)pt_PT
oaire.citation.volume16pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

Files

Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
Hormones 2017 194.pdf
Size:
709.07 KB
Format:
Adobe Portable Document Format
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download

Collections

END - Artigos