Evidence map›Paper›PMID 41743177›Full record

ArticleJCEM case reports2026

Congenital hyperinsulinism in an individual with CHARGE syndrome and a pathogenic

Consuelo Ibeas, Franco Giraudo, Jonna M E Männistö, Sarah E Flanagan, Verónica Mericq

Abstract readCase Reports
In one paragraph

Article in JCEM case reports, 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

5 authors.

Consuelo IbeasInstitute of Maternal and Child Research, University of Chile, Santiago 8360160, Chile.ORCID https://orcid.org/0000-0002-7690-6082
Franco GiraudoInstitute of Maternal and Child Research, University of Chile, Santiago 8360160, Chile.ORCID https://orcid.org/0000-0001-8750-1219
Jonna M E MännistöDepartment of Clinical and Biomedical Science, University of Exeter, Exeter EX2 5DW, UK.ORCID https://orcid.org/0000-0002-0596-0719
Sarah E FlanaganDepartment of Clinical and Biomedical Science, University of Exeter, Exeter EX2 5DW, UK.ORCID https://orcid.org/0000-0002-8670-6340
Verónica MericqInstitute of Maternal and Child Research, University of Chile, Santiago 8360160, Chile.ORCID https://orcid.org/0000-0003-2287-0181

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hyperinsulinemic hypoglycemia (HI) is a rare feature in individuals with coloboma, heart defects, atresia choanae, retardation of growth and development, genital abnormalities, and ear abnormalities (CHARGE) syndrome, though its underlying mechanisms remain poorly understood. We report a Chilean female proband with genetically confirmed CHARGE syndrome caused by a pathogenic variant in the

Indexed as

CHARGE syndromehyperinsulinemic hypoglycemiahyperinsulinism

Identifiers

PMID41743177
PMCPMC12930190

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

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 Socratic graph.