Evidence map›Paper›PMID 41970947›Full record

ArticleCase reports in genetics2026

Complete Androgen Insensitivity Syndrome (CAIS) Genetic Counseling: Navigating Germline Mosaicism Concerns.

Lauren M Iacono, Paul A Levy, Tamar G Baer

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Case reports in genetics, 2026. 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

3 authors.

Lauren M IaconoDepartment of Pediatrics, University of Vermont Children's Hospital, Larner College of Medicine at the University of Vermont, Burlington, Vermont, USA.ORCID https://orcid.org/0009-0002-3603-5523
Paul A LevyDepartment of Pediatrics, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York, USA, yu.edu.
Tamar G BaerDepartment of Pediatrics, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York, USA, yu.edu.

Funding

SUPPORT FOR THE ROSE F KENNEDY IDDRC P50P50HD105352 · NICHD · ALBERT EINSTEIN COLLEGE OF MEDICINE · PI Julie Secombe · 2021 to 2026
$7.0M
NICHD NIH HHS P50 HD105352
6 · The paper itself

Abstract

Complete androgen insensitivity syndrome (CAIS) is caused by pathogenic variants in the androgen receptor (AR) gene that lead to a phenotypically female appearance in XY individuals. It is almost always inherited as an X-linked recessive condition. Here, we present two sisters with different clinical courses. AR gene sequencing revealed identical hemizygous pathogenic variants in both sisters but not in the mother. This rare occurrence of germline mosaicism is the first described in CAIS. Germline mosaicism should be considered when "

Indexed as

androgen receptor gene mutationandrogen receptor genetic variantcomplete androgen insensitivity syndromegenetic counselinggermline mosaicism

Identifiers

PMID41970947
PMCPMC13069466

What OpenQuestion holds

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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.