Evidence map›Paper›PMID 41924297›Full record

ArticleJournal of the Endocrine Society2026

Comprehensive genetic rescreening improves diagnostic yield in congenital hyperinsulinism.

Jonna M E Männistö, Jayne A L Houghton, Jasmin J Bennett, Päivi Keskinen, Tiinamaija Tuomi, Heli Ruuskanen, Liisa A Viikari, Antti Jokiniitty, Jyrki Lähde, Joose Raivo and 3 more

Abstract read
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In one paragraph

Article in Journal of the Endocrine Society, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

13 authors.

Jonna M E MännistöDepartment of Clinical and Biomedical Sciences, University of Exeter, Exeter EX2 5DW, UK.ORCID https://orcid.org/0000-0002-0596-0719
Jayne A L HoughtonDepartment of Clinical and Biomedical Sciences, University of Exeter, Exeter EX2 5DW, UK.ORCID https://orcid.org/0000-0001-9474-1536
Jasmin J BennettDepartment of Clinical and Biomedical Sciences, University of Exeter, Exeter EX2 5DW, UK.
Päivi KeskinenCenter for Child, Adolescent and Maternal Health Research, Faculty of Medicine and Health Technology, Tampere University, Tampere FI-33100, Finland.
Tiinamaija TuomiDepartment of Endocrinology, Abdominal Centre, Helsinki University Hospital, Helsinki FI-00029, Finland.
Heli RuuskanenDepartment of Internal Medicine, Hospital Nova, Wellbeing Services County of Central Finland, Jyväskylä FI-40620, Finland.
Liisa A ViikariDepartment of Pediatrics, University of Turku and Turku University Hospital, Turku FI-20520, Finland.
Antti JokiniittyDepartment of Internal Medicine, Tampere University Hospital, Tampere FI-33520, Finland.
Jyrki LähdeDepartment of Pediatrics, Tampere University Hospital, Wellbeing Services of Pirkanmaa, Tampere FI-33520, Finland.
Joose RaivoGenome Center of Eastern Finland, Institute of Clinical Medicine, School of Medicine, Faculty of Health Sciences, University of Eastern Finland, Kuopio FI-70029, Finland.
Timo OtonkoskiStem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki FI-00029, Finland.
Hanna HuopioDepartment of Pediatrics, Tampere University Hospital, Wellbeing Services of Pirkanmaa, Tampere FI-33520, Finland.
Sarah E FlanaganDepartment of Clinical and Biomedical Sciences, University of Exeter, Exeter EX2 5DW, UK.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Context: Recent genetic discoveries in congenital hyperinsulinism (HI) and advances in sequencing technology suggest that the diagnostic yield may be improved by rescreening in people with genetically unsolved HI. Objective: To evaluate this hypothesis in a nationwide cohort of individuals with a historical diagnosis of HI of unknown genetic cause. Methods: Twenty-seven probands, representing 77% of the genetically unsolved HI cases in Finland, underwent rescreening which targeted the coding regions of 18 known HI genes, and 5 relevant non-coding regions. The median age of the cohort was 21 years (range, 4-44 years). Participants had previously undergone a median of 3 genetic tests (range, 1-4), all of which yielded negative ( Results: Genetic rescreening was informative in 22% (6 of 27) of cases. Definitive genetic diagnoses were established in 4 (15%) participants. These included the detection of non-coding variants in the Conclusion: In this Finnish cohort, rescreening with a comprehensive gene panel provided new or revised diagnoses in 22% of cases, informing on medical management and recurrence risk. These findings emphasize the importance of regularly updating genetic testing strategies and highlight the clinical value of re-evaluating the need for rescreening in genetically unexplained HI cases even following clinical remission.

Indexed as

adultschildren and adolescencecongenital hyperinsulinismgenetic rescreeninghyperinsulinaemic hypoglycemiatargeted next generation sequencing

Identifiers

PMID41924297
PMCPMC13035452

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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.