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

47,XYY karyotype and normal SRY in a patient with a female phenotype.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jun 2001

Benasayag S, Rittler M, Nieto F, Torres de Aguirre N, Reyes M, Copelli S

Abstract excerpt

A rare case of a female patient with a 47,XYY karyotype is described. She had normal female external genitalia, bilateral testes, rudimentary Fallopian tubes and no uterus. Molecular analysis revealed a normal SRY encoding sequence. The possible events in the etiology of this sex reversal entity are discussed.

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Disorders of Sex Development
Share to SRY gene

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

Share to Genes, sry

Share to Karyotyping

Share to Phenotype

Share to Reference Values

Source

Identifiers

PMID: 11453532
DOI: 10.1515/jpem.2001.14.6.797

Genes

SRY

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 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

47,XYY karyotype and normal SRY in a patient with a female phenotype.PMID 11453532Read ↗

46,XX sex reversal.Semantic proximity Read ↗

Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive.Semantic proximity Read ↗

Clinical, hormonal and cytogenetic evaluation of 46,XX males and review of the literature.Semantic proximity Read ↗

A novel mutation in the SRY gene causing 46 XY complete gonadal dysgenesis in a Chinese patientSemantic proximity Read ↗

[Genotypic sex and phenotypic sex: clinical, biochemical and molecular aspects in a patient with male hypogonadism and 46XX-45XO karyotype].Semantic proximity Read ↗

A patient with 46,XY/47,XYY karyotype and female phenotype: a case report.Semantic proximity Read ↗

SRY-negative XX fetus with complete male phenotype.Semantic proximity Read ↗

Detection of SRY in a 46,XY female (Swyer's syndrome).Semantic proximity Read ↗

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 ↗

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

46,XX testicular disorder of sexual development with SRY-negative caused by some unidentified mechanisms: a case report and review of the literature.Semantic proximity Read ↗

46, XX male sex reversal syndrome: a case report and review of the genetic basisSemantic proximity Read ↗

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