Evidence map›Paper›PMID 38963712›Full record

GuidelineEuropean thyroid journal2024

2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action.

Luca Persani, Patrice Rodien, Carla Moran, W Edward Visser, Stefan Groeneweg, Robin Peeters, Samuel Refetoff, Mark Gurnell, Paolo Beck-Peccoz, Krishna Chatterjee

Abstract readPractice Guideline
In one paragraph

Guideline in European thyroid journal, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed, 1 pooled it
–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

20 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Guideline
  2. EndoBridge 2025: pearls and highlights.Hormones (Athens, Greece) · 2026
    Review
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Thyrotoxicosis in MCT8 deficiency.The Journal of clinical endocrinology and metabolism · 2026
    Review
  9. Review
  10. Article
  11. Article
  12. A subtle initial clinical presentation of a TSH-secreting PitNET.Endocrinology, diabetes & metabolism case reports · 2025
    Article
  13. Article
  14. Review
  15. Article
  16. Review
  17. Review
  18. Article
  19. Article
  20. Article
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

10 authors.

Luca PersaniDepartment of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milano, Italy.ORCID 0000-0003-2068-9581
Patrice RodienService d'Endocrinologie-Diabétologie-Nutrition, Centre de référence des maladies rares de la Thyroïde et des récepteurs hormonaux, CHU d'Angers, Angers, France.ORCID 0000-0002-7785-5627
Carla MoranInstitute of Metabolic Science, University of Cambridge, Cambridge, UK.
W Edward VisserDepartment of Internal Medicine and Rotterdam Thyroid Center, Erasmus University Medical Center, Rotterdam, The Netherlands.ORCID 0000-0002-5248-863X
Stefan GroenewegDepartment of Internal Medicine and Rotterdam Thyroid Center, Erasmus University Medical Center, Rotterdam, The Netherlands.
Robin PeetersDepartment of Internal Medicine and Rotterdam Thyroid Center, Erasmus University Medical Center, Rotterdam, The Netherlands.
Samuel RefetoffDepartments of Medicine and Paediatrics and Committee on Genetics, The University of Chicago, Chicago, Illinois, USA.ORCID 0000-0003-0164-8231
Mark GurnellInstitute of Metabolic Science, University of Cambridge, Cambridge, UK.
Paolo Beck-PeccozDepartment of Medical Biotechnology and Translational Medicine, University of Milan, Milano, Italy.
Krishna ChatterjeeInstitute of Metabolic Science, University of Cambridge, Cambridge, UK.ORCID 0000-0002-2654-8854

Funding

THYROID PHYSIOLOGY STUDIES OF INHERITED DISORDERSR01DK015070 · NIDDK · UNIVERSITY OF CHICAGO · PI ANTONIO C BIANCO, Alexandra Mihaela Dumitrescu · 1986 to 2026
$8.1M
NIDDK NIH HHS R01 DK015070Wellcome TrustWellcome Trust 210755/Z/18/Z
6 · The paper itself

Abstract

Impaired sensitivity to thyroid hormones encompasses disorders with defective transport of hormones into cells, reduced hormone metabolism, and resistance to hormone action. Mediated by heritable single-gene defects, these rare conditions exhibit different patterns of discordant thyroid function associated with multisystem phenotypes. In this context, challenges include ruling out other causes of biochemical discordance, making a diagnosis using clinical features together with the identification of pathogenic variants in causal genes, and managing these rare disorders with a limited evidence base. For each condition, the present guidelines aim to inform clinical practice by summarizing key clinical features and useful investigations, criteria for molecular genetic diagnosis, and pathways for management and therapy. Specific, key recommendations were developed by combining the best research evidence available with the knowledge and clinical experience of panel members, to achieve a consensus.

Indexed as

Thyroid HormonesEuropeHumansSocieties, MedicalThyroid DiseasesThyroid Hormone Resistance SyndromeThyroid Hormonesclinical practice guidelinedeiodinasediagnosis and managementimpaired sensitivity to thyroid hormonesresistance to thyroid hormoneselenoproteinthyroid hormone receptorthyroid hormone transporter

Identifiers

PMID38963712
PMCPMC11301568

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.