Evidence map›Paper›PMID 42137628›Full record

ArticleClinical case reports2026

Genetic Characterization and Multidisciplinary Management of Complete Androgen Insensitivity Syndrome: Unveiling a Novel AR Mutation.

Astorino Maria Francesca, Scalise Serena, Di Bella Chiara, La Rosa Maria Angela, Piraino Basilia, Calabrò Marco, Gentile Mattia, Ruggeri Rosaria Maddalena, Esposito Emanuela, Briuglia Silvana and 1 more

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In one paragraph

Article in Clinical case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. 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. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors.

Astorino Maria FrancescaUniversity of Messina Department of Biomedical and Dental Sciences and Morpho-Functional Imaging Messina Italy.
Scalise SerenaDepartment of Human Pathology DETEV University of Messina Messina Italy.
Di Bella ChiaraUnit of Genetics and Farmacogenetics University Hospital of Messina Messina Italy.
La Rosa Maria AngelaUnit of Genetics and Farmacogenetics University Hospital of Messina Messina Italy.
Piraino BasiliaUnit of Genetics and Farmacogenetics University Hospital of Messina Messina Italy.
Calabrò MarcoUniversity of Messina Department of Biomedical and Dental Sciences and Morpho-Functional Imaging Messina Italy.
Gentile MattiaMedical Genetics Unit Bari Italy.
Ruggeri Rosaria MaddalenaDepartment of Human Pathology DETEV University of Messina Messina Italy.
Esposito EmanuelaUnit of Genetics and Farmacogenetics University Hospital of Messina Messina Italy.
Briuglia SilvanaUniversity of Messina Department of Biomedical and Dental Sciences and Morpho-Functional Imaging Messina Italy.ORCID https://orcid.org/0000-0002-5213-441X
Cannavò SalvatoreDepartment of Human Pathology DETEV University of Messina Messina Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A novel AR frameshift mutation (c.2023_2035del) was identified in a 17-year-old phenotypic female with Complete Androgen Insensitivity Syndrome (CAIS). This report emphasizes the necessity of molecular characterization and multidisciplinary management to address diagnosis, surgical timing, and psychological well-being in disorder of sex development (DSD) patients.

Indexed as

cytogeneticsendrocrinologygenetic counselinghealthcare managementmetabolic disordersmolecular biological analysis

Identifiers

PMID42137628
PMCPMC13169139

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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.