Evidence map›Paper›PMID 42006261›Full record

ReviewFrontiers in endocrinology2026

Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques.

Mirela Costa de Miranda, Ana Carolina Maués de Oliveira, Gabriel Junqueira Soares, Júlio Américo Pereira Batatinha, Ana Claudia Latronico, Berenice Bilharinho Mendonca, Tania A S S Bachega

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Frontiers in endocrinology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Case Report: unmasking pseudo-homozygosity inFrontiers in endocrinology · 2026
    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

7 authors.

Mirela Costa de MirandaLaboratório de Hormônios e Genética Molecular - LIM/42, Unidade de Desenvolvimento, Disciplina de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Ana Carolina Maués de OliveiraLaboratório de Hormônios e Genética Molecular - LIM/42, Unidade de Desenvolvimento, Disciplina de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Gabriel Junqueira SoaresLaboratório de Hormônios e Genética Molecular - LIM/42, Unidade de Desenvolvimento, Disciplina de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Júlio Américo Pereira BatatinhaLaboratório de Hormônios e Genética Molecular - LIM/42, Unidade de Desenvolvimento, Disciplina de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Ana Claudia LatronicoLaboratório de Hormônios e Genética Molecular - LIM/42, Unidade de Desenvolvimento, Disciplina de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Berenice Bilharinho MendoncaLaboratório de Hormônios e Genética Molecular - LIM/42, Unidade de Desenvolvimento, Disciplina de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Tania A S S BachegaLaboratório de Hormônios e Genética Molecular - LIM/42, Unidade de Desenvolvimento, Disciplina de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most technically challenging monogenic conditions for molecular diagnosis, owing to the complex genomic architecture of the

Indexed as

Adrenal Hyperplasia, CongenitalGenomicsMolecular Diagnostic TechniquesSteroid 21-HydroxylaseHigh-Throughput Nucleotide SequencingHumansCYP21A2 protein, humanSteroid 21-Hydroxylase21-OHD genotypecongenital adrenal hyperplasiaCYP21A2 molecular diagnosislong-read sequencingnext-generation sequencing

Identifiers

PMID42006261
PMCPMC13083008

What OpenQuestion holds

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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.