Clinical and genetic characteristics of patients with monocarboxylate transporter-8 deficiency: a multicentre retrospective study

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dc.authoridarslan, Emrullah/0000-0003-3613-8119
dc.authoridERGEN DIBEKLIOGLU, SAIME/0000-0003-2412-8837
dc.authoridHatipoglu, Nihal/0000-0002-0991-6539
dc.authoridCELIK, Nurullah/0000-0003-1583-6807
dc.authoridHacihamdioglu, Bulent/0000-0001-7070-6429
dc.authoridDemir, Korcan/0000-0002-8334-2422
dc.contributor.authorCelik, Nurullah
dc.contributor.authorDemir, Korcan
dc.contributor.authorDibeklioglu, Saime Ergen
dc.contributor.authorDundar, Bumin Nuri
dc.contributor.authorHatipoglu, Nihal
dc.contributor.authorMutlu, Gul Yesiltepe
dc.contributor.authorArslan, Emrullah
dc.date.accessioned2025-05-04T16:47:26Z
dc.date.available2025-05-04T16:47:26Z
dc.date.issued2024
dc.departmentSivas Cumhuriyet Üniversitesi
dc.description.abstractAllan- Herndon-Dudley syndrome is a neurodevelopmental disorder characterized by motor and intellectual disabilities. Despite its rarity, there has been a rise in interest due to ongoing research and emerging therapy suggestions. In this multicenter, retrospective, cross-sectional study, the genetic characteristics and clinical data of twenty-one cases of genetically confirmed MCT8 deficiency were evaluated. The median age at the diagnosis was 2.4 ( 1.29; 5.9) years, which ranged from 0.5 to 14.0 years. The median follow-up period was 2.34 years, ranging from four months to 7.9 years. In 21 patients, 17 different variants were detected in the SLC16A2 gene. Eleven of these variants (c. 1456delC, c.439G > T, c.949C > A, c.1392dupC, c.1612C > T, c. 407dup, c. 781del, c.589C > A, c.712G > A, c. 311 T > A, c.1461del) have not been previously reported. In this study, with the exception of three cases with fT3/fT4 ratios of 4.95, 3.58, and 4.52, all cases exhibited fT3/fT4 ratios higher than five (9.9 (7.9; 12.0)). Conclusion: MCT8 deficiency is a rare and devastating disorder characterized by central hypothyroidism and peripheral thyrotoxicosis. The fT3/fT4 ratio can be used as a useful diagnostic indicator of MCT8 deficiency in males with mental and motor retardation. There is a need to raise clinicians' awareness of this potentially treatable condition with the emergence of new and promising treatments.
dc.identifier.doi10.1007/s00431-024-05931-7
dc.identifier.issn0340-6199
dc.identifier.issn1432-1076
dc.identifier.issue1
dc.identifier.pmid39699593
dc.identifier.scopus2-s2.0-85212784310
dc.identifier.scopusqualityQ1
dc.identifier.urihttps://doi.org/10.1007/s00431-024-05931-7
dc.identifier.urihttps://hdl.handle.net/20.500.12418/35623
dc.identifier.volume184
dc.identifier.wosWOS:001445069500001
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherSpringer
dc.relation.ispartofEuropean Journal of Pediatrics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WOS_20250504
dc.subjectMCT8 deficiency
dc.subjectAllan-Herndon-Dudley syndrome
dc.subjectThyroid disease
dc.subjectThyroid hormone transport
dc.titleClinical and genetic characteristics of patients with monocarboxylate transporter-8 deficiency: a multicentre retrospective study
dc.typeArticle

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