Evidence map›Paper›PMID 41438257›Full record

ArticleCase reports in endocrinology2025

Severe Clinical Manifestation of a Salt Wasting Form of Congenital Adrenal Hyperplasia Harboring a Complex Genotype.

Irene Fylaktou, Vasiliki Rengina Tsinopoulou, Amalia Sertedaki, Christina Kanaka-Gantenbein, Assimina Galli-Tsinopoulou

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Case reports in endocrinology, 2025. 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

5 authors.

Irene FylaktouDivision of Endocrinology, Diabetes and Metabolism 'Aghia Sophia' Children's Hospital ENDO-ERN Center for Rare Paediatric Endocrine Diseases, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece, uoa.gr.ORCID https://orcid.org/0000-0002-4501-4815
Vasiliki Rengina Tsinopoulou2nd Department of Paediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, AHEPA University General Hospital, Thessaloniki, Greece, auth.gr.ORCID https://orcid.org/0000-0002-2531-2313
Amalia SertedakiDivision of Endocrinology, Diabetes and Metabolism 'Aghia Sophia' Children's Hospital ENDO-ERN Center for Rare Paediatric Endocrine Diseases, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece, uoa.gr.ORCID https://orcid.org/0000-0002-3648-3812
Christina Kanaka-GantenbeinDivision of Endocrinology, Diabetes and Metabolism 'Aghia Sophia' Children's Hospital ENDO-ERN Center for Rare Paediatric Endocrine Diseases, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece, uoa.gr.ORCID https://orcid.org/0000-0002-6963-5464
Assimina Galli-Tsinopoulou2nd Department of Paediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, AHEPA University General Hospital, Thessaloniki, Greece, auth.gr.ORCID https://orcid.org/0000-0002-8503-3893

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: 21-hydroxylase deficiency (21-OHD) represents the most common form of congenital adrenal hyperplasia (CAH) caused by pathogenic variants in the Methods: The patient, his parents, and the paternal grandparents underwent Results: The newborn carried three Conclusion: The molecular investigation of the proband presenting with the SW form of CAH revealed a complex genotype that could only be determined by employing different molecular strategies. Laboratories should be aware of the possibility of complex genotypes in the

Identifiers

PMID41438257
PMCPMC12721730

What OpenQuestion 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 OpenQuestion graph.