Evidence map›Paper›PMID 40860577›Full record

ArticleJCEM case reports2025

Two Cases of 46,XY Differences of Sex Development Due to Gonadal Dysgenesis Associated With Novel

Joshua V Gialouris, Pak Leng Cheong, Stipe Zekanovic, Mawson Wang, Ayanthi Wijewardene

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

Article in JCEM case reports, 2025. 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

5 authors.

Joshua V GialourisDepartment of Andrology, Concord Hospital, Sydney, NSW 2139, Australia.ORCID https://orcid.org/0009-0000-5596-9095
Pak Leng CheongFaculty of Medicine and Health, University of Sydney, Sydney, NSW 2052, Australia.ORCID https://orcid.org/0000-0002-0095-4459
Stipe ZekanovicDepartment of Medical Genomics, Royal Prince Alfred Hospital, Sydney, NSW 2050, Australia.
Mawson WangANZAC Research Institute, University of Sydney, Sydney, NSW 2138, Australia.ORCID https://orcid.org/0000-0003-1637-5117
Ayanthi WijewardeneFaculty of Medicine and Health, University of Sydney, Sydney, NSW 2052, Australia.ORCID https://orcid.org/0009-0007-7868-7446

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Differences of sex development (DSDs) are rare conditions with atypical chromosomal, gonadal, or anatomical sex. We describe 2 cases of 46,XY DSD due to complete gonadal dysgenesis, a 16-year-old female and a 45-year-old female, who both presented with primary amenorrhea and hirsutism. The 16-year-old had tall stature and normal-appearing female external genitalia but absent female secondary sex characteristics. Hormonal assessment revealed hypergonadotropic hypogonadism. The uterus appeared normal on transabdominal ultrasound. Testing revealed 46,XY karyotype and

Indexed as

differences of sex developmentgonadal dysgenesisNR5A1primary amenorrheasteroidogenic factor-1

Identifiers

PMID40860577
PMCPMC12371325

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.