Evidence map›Paper›PMID 42273278›Full record

ArticleJCEM case reports2026

Two adult 46,XY sisters with female-like phenotype due to a novel homozygous

Marcela G Meirelles, Renata C Scalco, Juliana M Marques, José Lima Junior, Cristina F Bueno, Berenice B Mendonca

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in JCEM case reports, 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. Review
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

6 authors.

Marcela G MeirellesUnidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Laboratório SELA, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo 05403-000, Brazil.ORCID https://orcid.org/0000-0003-1404-0030
Renata C ScalcoUnidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Laboratório SELA, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo 05403-000, Brazil.
Juliana M MarquesUnidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Laboratório SELA, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo 05403-000, Brazil.
José Lima JuniorDivisão de Endocrinologia, Departamento de Clínica Médica, Faculdade de Ciências Médicas, Irmandade da Santa Casa de Misericórdia de São Paulo, São Paulo 01221-020, Brazil.
Cristina F BuenoDivisão de Endocrinologia, Departamento de Clínica Médica, Faculdade de Ciências Médicas, Irmandade da Santa Casa de Misericórdia de São Paulo, São Paulo 01221-020, Brazil.
Berenice B MendoncaUnidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Laboratório SELA, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo 05403-000, Brazil.ORCID https://orcid.org/0000-0003-1762-1084

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The luteinizing hormone/choriogonadotropin receptor (LHCGR) is essential for Leydig cell function, gonadal steroidogenesis, and male sexual differentiation. Loss-of-function variants in

Indexed as

46,XY DSDdifferences of sex developmentleydig cell hypoplasialuteinizing hormone receptorsplice-site mutation

Identifiers

PMID42273278
PMCPMC13247520

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.