The sole presence of the testis-determining region of the Y chromosome (SRY) in 46,XX patients is associated with phenotypic variability.

doi:10.1159/000182319

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

Back to search

Article

The sole presence of the testis-determining region of the Y chromosome (SRY) in 46,XX patients is associated with phenotypic variability.

Hormone research - 1 Jan 1992

Boucekkine C, Toublanc J E, Abbas N, Semrouni M, Vilain E, McElreavey K, Mugneret F, Fellous M

Abstract excerpt

Four cases of XX patients with testis development are reported. The aim of this study was to describe their clinical features and to see if there was any relationship between phenotypes and the presence of Y material. Several human Y-derived sequences including the SRY probe were used to analyze the DNA of the patients. Yp material including the pseudo-autosomal region and SRY was detected. The cases reported in...

Topics

Adolescent
Adult
Base Sequence
Child
Child, Preschool
DNA
DNA Probes
Disorders of Sex Development
Female
Genotype
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Phenotype

Sex Determination Analysis

Sex Differentiation

Testis

Translocation, Genetic

Source

Open in PubMed

Identifiers

PMID: 1292977
DOI: 10.1159/000182319

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1292977-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The sole presence of the testis-determining region of the Y chromosome (SRY) in 46,XX patients is associated with phenotypic variability.PMID 1292977Read ↗

SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphroditeSemantic proximity Read ↗

Clinical traits and molecular findings in 46,XX males.Semantic proximity Read ↗

Male patient 46,XX SRY-negative and unambiguous genitalia: A case reportSemantic proximity Read ↗

The role of the sex-determining region of the Y chromosome (SRY) in the etiology of 46,XX true hermaphroditismSemantic proximity Read ↗

SRY-negative true hermaphrodites and an XX male in two generations of the same family.Semantic proximity Read ↗

Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome.Semantic proximity Read ↗

Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA-sequences.Semantic proximity Read ↗

Combined Leydig cell and Sertoli cell dysfunction in 46,XX males lacking the sex determining region Y gene.Semantic proximity Read ↗

An autosomal or X linked mutation results in true hermaphrodites and 46,XX males in the same family.Semantic proximity Read ↗

Three new 46,XX male patients: a clinical, cytogenetic and molecular analysis.Semantic proximity Read ↗

A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRYSemantic proximity Read ↗

The role of the sex-determining region Y gene in the etiology of 46,XX maleness.Semantic proximity Read ↗

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