Evidence map›Paper›PMID 32358738›Full record

ArticleJournal of endocrinological investigation2021

Genetic profiling of CAH Egyptian children: rapid guide to clinical interpretation of common mutations.

F Elmougy, M Elsharkawy, M Hafez, S A Atty, H Baz, A Ibrahim, H Soliman, S Ekladious, M Abdullatif, G Thabet and 5 more

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In one paragraph

Article in Journal of endocrinological investigation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.5field-weighted citation impact, top 38% 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

5 citing papers in PubMed, 7 citations in OpenAlex.

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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

15 authors at 2 institutions in 1 country.

F ElmougyClinical and Chemical Pathology Department, Faculty of Medicine, Kasr Al-Aini Hospital, Cairo University, Cairo, 11562, Egypt.
M ElsharkawyClinical and Chemical Pathology Department, Faculty of Medicine, Kasr Al-Aini Hospital, Cairo University, Cairo, 11562, Egypt. marwaelsharkawy@yahoo.com.ORCID http://orcid.org/0000-0001-6704-951X
M HafezDiabetes, Endocrine and Metabolism Pediatric Unit, Cairo University, Cairo, Egypt.
S A AttyClinical and Chemical Pathology Department, Faculty of Medicine, Kasr Al-Aini Hospital, Cairo University, Cairo, 11562, Egypt.
H BazClinical and Chemical Pathology Department, Faculty of Medicine, Kasr Al-Aini Hospital, Cairo University, Cairo, 11562, Egypt.
A IbrahimDiabetes, Endocrine and Metabolism Pediatric Unit, Cairo University, Cairo, Egypt.
H SolimanDiabetes, Endocrine and Metabolism Pediatric Unit, Cairo University, Cairo, Egypt.
S EkladiousClinical and Chemical Pathology Department, Faculty of Medicine, Kasr Al-Aini Hospital, Cairo University, Cairo, 11562, Egypt.
M AbdullatifClinical and Chemical Pathology Department, Faculty of Medicine, Kasr Al-Aini Hospital, Cairo University, Cairo, 11562, Egypt.
G ThabetClinical and Chemical Pathology Department, Faculty of Medicine, Kasr Al-Aini Hospital, Cairo University, Cairo, 11562, Egypt.
N RadyClinical and Chemical Pathology Department, Faculty of Medicine, Kasr Al-Aini Hospital, Cairo University, Cairo, 11562, Egypt.
A AfifClinical and Chemical Pathology Department, Faculty of Medicine, Kasr Al-Aini Hospital, Cairo University, Cairo, 11562, Egypt.
A TolbaClinical and Chemical Pathology Department, Faculty of Medicine, Kasr Al-Aini Hospital, Cairo University, Cairo, 11562, Egypt.
Z ZakiClinical and Chemical Pathology Department, Minia University, El Minya, Egypt.
N MusaDiabetes, Endocrine and Metabolism Pediatric Unit, Cairo University, Cairo, Egypt.
Cairo University · EGMinia University · EG

Funding

STDF 4671
6 · The paper itself

Abstract

objectivesThe prevalence of CAH in Egypt is reported to be ten times more than that of the worldwide prevalence. The study aimed at genetic screening of children diagnosed with 21-alpha hydroxylase deficiency congenital adrenal hyperplasia (21OHD-CAH). In addition, the study offers a rapid and easy guide for clinical reporting of common mutations for endocrinologists.

methodsA cohort of 174 unrelated Egyptian children with 21OHD-CAH were screened for 11 common CYP21A2 gene mutations using a strip hybridization assay, and then, bioinformatics analysis was done to report the pathogenicity of the common mutations for clinical classification.

resultsThe most common mutations were I2 splice and p.Q318X. Deletions/conversions comprised 45.9% of the cohort, whereas 7.4% of the cases were negative for all mutations. The least positively detected point mutations were p.P453S, cluster E6, p.R483P, and p.L307FS, which were detected in fewer than 5% of cases.

conclusionStrip hybridization assay is a rapid screening tool for the diagnosis of CAH. The authors hypothesized an easy and rapid scheme for clinical interpretation of the strip results to gain the highest value of the strip in diagnosis.

Indexed as

MutationPhenotypeAdrenal Hyperplasia, CongenitalBiomarkersCase-Control StudiesChildChild, PreschoolCohort StudiesEgyptFemaleFollow-Up StudiesGenetic TestingGenotypeHumansInfantInfant, NewbornBiomarkersCYP21A2 protein, humanSteroid 21-HydroxylaseCongenital adrenal hyperplasia (CAH)–21-alpha hydroxylase deficiencyCYP21A2 geneStrip hybridization assay

Identifiers

PMID32358738
OpenAlexW3023085580

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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.