Evidence map›Paper›PMID 41508830›Full record

ReviewThe Journal of clinical endocrinology and metabolism2026

Thyrotoxicosis in MCT8 deficiency.

Kristien Boelaert, Andrew Bauer, Anne R Cappola, Krishna Chatterjee, Johannes W Dietrich, Lindsey Nicol, Luca Persani, Salman Razvi, Athanasia Stoupa

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in The Journal of clinical endocrinology and metabolism, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Kristien BoelaertDepartment of Applied Health, School of Health Sciences, College of Medicine and Health, University of Birmingham, Birmingham B15 2FG, UK.ORCID 0000-0002-6435-177X
Andrew BauerThe Thyroid Center, Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0002-3952-881X
Anne R CappolaDivision of Endocrinology, Diabetes, and Metabolism, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0002-0883-9754
Krishna ChatterjeeInstitute of Metabolic Science, University of Cambridge, Cambridge CB2 0QQ, UK.ORCID 0000-0002-2654-8854
Johannes W DietrichDiabetes, Endocrinology and Metabolism Section, Department of Internal Medicine I, St. Josef Hospital, Ruhr University Bochum, Bochum, NRW D-44791, Germany.ORCID 0000-0002-1185-3549
Lindsey NicolDivision of Pediatric Endocrinology and Diabetes, Oregon Health & Science University, Portland, OR 97239, USA.ORCID 0000-0002-4073-6683
Luca PersaniDepartment of Medical Biotechnology and Translational Medicine, University of Milan, Milan 20100, Italy.ORCID 0000-0003-2068-9581
Salman RazviTranslational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.ORCID 0000-0002-9047-1556
Athanasia StoupaParis Regional Screening Program Department, Centre Régional de Dépistage Néonatal (CRDN), Ile de France, 75015 Paris, France.ORCID 0000-0002-1164-5862

Funding

Childhood Diabetes Clinical & Molecular Research Training ProgramT32DK077586 · NIDDK · UNIVERSITY OF WISCONSIN-MADISON · PI Brigid Ellen Gregg, Scott B. Reeder · 2008 to 2026
$2.4M
Egetis TherapeuticsNIDDK NIH HHS T32 DK077586
6 · The paper itself

Abstract

Monocarboxylate transporter 8 (MCT8) deficiency, also known as Allan-Herndon-Dudley syndrome, is a rare, severely debilitating, and life-limiting genetic disorder caused by variants in the SLC16A2 gene that render the MCT8 thyroid hormone transporter partially or completely dysfunctional. MCT8 is highly expressed throughout the body, including the brain. Its deficiency disrupts thyroid hormone homeostasis and is associated with 2 distinct concomitant clinical presentations: persistent peripheral thyrotoxicosis resulting from elevated serum levels of triiodothyronine and neurodevelopmental impairment arising from low thyroid hormone levels in the brain. The disorder severely impacts quality of life and reduces life expectancy to a median of 35 years due to a range of clinical sequelae, with approximately 30% of affected individuals dying during childhood. Recognition and treatment of thyrotoxicosis are crucial to prevent associated symptoms and long-term sequelae.

Indexed as

Monocarboxylic Acid TransportersMuscle HypotoniaMuscular AtrophyThyrotoxicosisX-Linked Intellectual DisabilityHumansSymportersThyroid HormonesMonocarboxylic Acid TransportersSLC16A2 protein, humanSymportersThyroid HormonesAllan–Herndon–Dudley syndromeMCT8MCT8 deficiencySLC16A2thyroid dysfunctionthyroid hormonethyrotoxicosis

Identifiers

PMID41508830
PMCPMC13017859

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.