Evidence map›Paper›PMID 30372544›Full record

ArticleClinical endocrinology2019

Utility of systematic TSHR gene testing in adults with hyperthyroidism lacking overt autoimmunity and diffuse uptake on thyroid scintigraphy.

Kashyap A Patel, Bridget Knight, Aftab Aziz, Tarig Babiker, Avades Tamar, Joanna Findlay, Sue Cox, Ioannis Dimitropoulos, Carolyn Tysoe, Vijay Panicker and 1 more

Open access · hybridAbstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical endocrinology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 42% of its field
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

2 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
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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

11 authors at 5 institutions in 2 countries.

Kashyap A PatelThe Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.ORCID 0000-0002-9240-8104
Bridget KnightThe Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Aftab AzizDepartment of Diabetes and Endocrinology, University Hospitals Plymouth NHS Trust, Plymouth, UK.
Tarig BabikerDepartment of Diabetes and Endocrinology, University Hospitals Plymouth NHS Trust, Plymouth, UK.ORCID 0000-0001-8759-8516
Avades TamarDepartment of Diabetes and Endocrinology, The Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
Joanna FindlayNIHR Clinical Research Facility, R&D Department, The Royal Devon and Exeter NHS Foundation trust, Exeter, UK.
Sue CoxDepartment of Diabetes and Endocrinology, Torbay and South Devon, NHS Foundation Trust, Torbay, UK.
Ioannis DimitropoulosDepartment of Diabetes and Endocrinology, University Hospitals Plymouth NHS Trust, Plymouth, UK.
Carolyn TysoeDepartment of Molecular Genetics, The Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
Vijay PanickerDepartment of Endocrinology, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.ORCID 0000-0003-1551-8411
Bijay VaidyaThe Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.ORCID 0000-0002-2223-0494
Royal Devon & Exeter NHS Foundation Trust · GBUniversity Hospitals Plymouth NHS Trust · GBUniversity of Exeter · GBSir Charles Gairdner Hospital · AUTorbay and South Devon NHS Foundation Trust · GB

Funding

Wellcome TrustWellcome Trust 110082/Z/15/Z
6 · The paper itself

Abstract

objectivePatients with hyperthyroidism lacking autoimmune features but showing diffuse uptake on thyroid scintigram can have either Graves' disease or germline activating TSH receptor (TSHR) mutation. It is important to identify patients with activating TSHR mutation due to treatment implication, but the overlapping clinical features with Graves' disease make it difficult to discriminate these two conditions without genetic testing. Our study aimed to assess the potential of systematic TSHR mutation screening in adults with hyperthyroidism, showing diffuse uptake on thyroid scintigraphy but absence of TSH receptor antibodies (TRAb) and clinical signs of autoimmunity.

designA cross-sectional study of Caucasian adults with hyperthyroidism, managed at three endocrine centres in the South West, UK, from January 2006 to April 2017.

methodsWe recruited 78 adult Caucasian patients with hyperthyroidism showing diffuse uptake on

resultsGenetic analysis identified 11 patients with four variants in TSHR [p.(Glu34Lys), p.(Asp36His), p.(Pro52Thr) and p.(Ile334Thr)]. None of these variants were pathogenic according to the American College of Medical Genetics and Genomics guideline.

conclusionsActivating TSHR mutations are a rare cause of nonautoimmune adult hyperthyroidism. Our study does not support the routine genetic testing in adult patients with hyperthyroidism showing diffuse uptake on scintigraphy but negative TRAb and lacking extrathyroidal manifestations of Graves' disease.

Indexed as

DNA Mutational AnalysisAdultCross-Sectional StudiesDiagnosis, DifferentialGenetic TestingGerm-Line MutationGraves DiseaseHumansHyperthyroidismRadionuclide ImagingReceptors, ThyrotropinThyroid GlandUnited KingdomReceptors, ThyrotropinGraves’ diseasehyperthyroidismthyroid scintigraphyTRAbTSHR

Identifiers

PMID30372544
PMCPMC6378592
OpenAlexW2899464267

What OpenQuestion holds

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Registered trials

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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.