Evidence map›Paper›PMID 37324261›Full record

ArticleFrontiers in endocrinology2023

The prevalence and genotype of 21-hydroxylase deficiency in the Croatian Romani population.

Katja K Dumic, Zorana Grubic, Vesna Kusec, Duje Braovac, Kristina Gotovac, Maja Vinkovic, Maja Vucinic, Miroslav Dumic

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in endocrinology, 2023. 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
0.6field-weighted citation impact, top 30% 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

1 citing paper in PubMed, 4 citations in OpenAlex.

  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

8 authors at 2 institutions in 1 country.

Katja K DumicDepartment of Paediatric Endocrinology and Diabetes, University Hospital Centre Zagreb, University of Zagreb School of Medicine, Zagreb, Croatia.
Zorana GrubicTissue Typing Centre, Department of Transfusion Medicine and Transplantation Biology, University Hospital Centre Zagreb, University of Zagreb School of Medicine, Zagreb, Croatia.
Vesna KusecDepartment of Laboratory Medicine, University Hospital Centre Zagreb, University of Zagreb School of Medicine, Zagreb, Croatia.
Duje BraovacDepartment of Paediatric Endocrinology and Diabetes, University Hospital Centre Zagreb, University of Zagreb School of Medicine, Zagreb, Croatia.
Kristina GotovacDepartment for Functional Genomics, Center for Translational and Clinical Research, University of Zagreb School of Medicine, University Hospital Center Zagreb, Zagreb, Croatia.
Maja VinkovicDepartment of Paediatric Endocrinology and Diabetes, University Hospital Centre Zagreb, University of Zagreb School of Medicine, Zagreb, Croatia.
Maja VucinicDepartment of Pediatrics, General Hospital Našice, Našice, Croatia.
Miroslav DumicDepartment of Paediatric Endocrinology and Diabetes, University Hospital Centre Zagreb, University of Zagreb School of Medicine, Zagreb, Croatia.
University of Zagreb · HRUniversity Hospital Centre Zagreb · HR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency (21-OHD) is a rare autosomal recessive disorder caused by pathological variants in the Design: Cross-sectional study. Methods: Data from a Croatian 21-OHD genetic database was reviewed, and only Romani patients were included in the study. Results: According to a survey conducted in 2017, Croatia had 22,500 Romani people and six of them had a salt-wasting (SW) form of 21-OHD. All were homozygous for the c.IVS2-13A/C-G pathological variant in intron 2 and descended from consanguineous families belonging to different Romani tribes. The calculated prevalence of 21-OHD in Croatian Romani is 1:3,750, while in the Croatian general population, it is 1:18,000. Three of the six Romani patients originated from two neighboring villages in North-western Croatia (Slavonia County), as well as the seventh patient who is of mixed Romani/Croatian descent and heterozygous for the c.IVS2-13A/C-G pathological variant (not included in the prevalence calculation). Conclusion: A high prevalence of SW 21-OHD in the Croatian Romani population caused by the homozygous cIVS2-13A/C-G pathological variant was found. In addition to isolation and consanguinity, other possible reasons could be the heterozygous advantage of the

Indexed as

Adrenal Hyperplasia, CongenitalRomani PeopleCroatiaCross-Sectional StudiesGenotypeHumansPrevalenceSteroid 21-HydroxylaseCYP21A2 protein, humanSteroid 21-Hydroxylasebottle neck effectcongenital adrenal hyperplasiaconsanguinityCYP21A2 heterozygous advantagefounder mutationRomani HolocaustRomani tribes

Identifiers

PMID37324261
PMCPMC10266231
OpenAlexW4378806753

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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.