Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Rare SRY-negative 46,XX disorder of sex development with male phenotype and ectopic gonads: a case report.

Frontiers in endocrinology - 1 Jan 2026

Luo Jianxu, Huang Fuxin, Li Jianlin, Mo Enhao, Wang Hu, Zhang Jianyong, Pang Caifeng, Lei Dezheng, Chen Jiabo

Abstract excerpt

Individuals who exhibit male external genitalia and testicular tissue despite a 46,XX karyotype with SRY-Negative represent an exceptionally rare phenotype of disorders of sex development (DSD), and the underlying mechanism remains poorly understood. We report an 18-year-old patient with a 46,XX karyotype and a male phenotype who presented with a 2-year history of left scrotal pain. Physical examination...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to 46, XX Disorders of Sex Development
Share to Adolescent

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Choristoma

Share to SRY gene

Share to Phenotype

Share to Sex-Determining Region Y Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 42137356
DOI: 10.3389/fendo.2026.1829751
PMCID: PMC13171205

Genes

SRY

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 19 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rare SRY-negative 46,XX disorder of sex development with male phenotype and ectopic gonads: a case report.PMID 42137356Read ↗

A case report of an incidental finding of a 46,XX, SRY-negative male with masculine phenotype during standard fertility workup with review of the literature and proposed immediate and long-term management guidance.Semantic proximity Read ↗

State of the art review in gonadal dysgenesis: challenges in diagnosis and managementSemantic proximity Read ↗

Phenotypic spectrum and long-term outcomes of patients with 46,XX disorders of sex developmentSemantic proximity Read ↗

Sex determination and disorders of sex development according to the revised nomenclature and classification in 46,XX individuals.Semantic proximity Read ↗

46 XX karyotype during male fertility evaluation; case series and literature reviewSemantic proximity Read ↗

Clinical spectrum of female genital malformations in prenatal diagnosisSemantic proximity Read ↗

DSDs: genetics, underlying pathologies and psychosexual differentiation.Semantic proximity Read ↗

Ovotesticular Disorder of Sex Development: An Unusual PresentationSemantic proximity Read ↗

Swyer syndromeSemantic proximity Read ↗

46,XX Male Disorder of Sexual Development: A Case ReportSemantic proximity Read ↗

Ovotesticular Difference of Sex Development: Genetic Background, Histological Features, and Clinical ManagementSemantic proximity Read ↗

Embryological–clinical classification of female genital tract malformations – a review and updateSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.