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

Topics Community

Article

Clinical expression and SRY gene analysis in XY subjects lacking gonadal tissue.

American journal of medical genetics - 15 Mar 2001

Zenteno J C, Jiménez A L, Canto P, Valdéz H, Méndez J P, Kofman-Alfaro S

Abstract excerpt

In several syndromes genetic males lack gonadal tissue. A range of phenotypes are seen, which varies from complete female external genitalia to anorchic subjects with sexual infantilism. Differences in phenotypic expression depend on the stage at which testes degenerated during intrauterine devel...

Topics

Adult
DNA-Binding Proteins
Female
Genitalia
Humans
In Vitro Techniques
Karyotyping
Nuclear Proteins
Phenotype
Sex Determination Analysis
Sex Determination Processes
Sex-Determining Region Y Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Transcription Factors

X Chromosome

Y Chromosome

Source

Identifiers

PMID: 11241497
DOI: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1170>3.0.co;2-a

Genes

SRY

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-11241497-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 31 Aug 2026.

Community interpretation

Discuss the evidence

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

0

discussions

0

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

Clinical expression and SRY gene analysis in XY subjects lacking gonadal tissue.PMID 11241497Read ↗

Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination.Semantic proximity Read ↗

Novel mosaic SRY gene deletions in three newborn males with variable genitourinary malformations.Semantic proximity Read ↗

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

CLINICAL AND MOLECULAR ANALYSIS OF XX SEX REVERSED PATIENTSSemantic proximity Read ↗

Swyer syndrome with SRY + Y chromosome and rudimentary internal genitalia demonstrating temporary action of antimüllerian hormone in utero: a case report.Semantic proximity Read ↗

Mutations in the conserved domain of SRY are uncommon in XY gonadal dysgenesis.Semantic proximity Read ↗

Extended pedigree with multiple cases of XX sex reversal in the absence of SRY and of a mutation at the SOX9 locus.Semantic proximity Read ↗

Complete XY gonadal dysgenesis and aspects of the SRYgenotype and gonadal tumor formation.Semantic proximity Read ↗

Abnormal gonadal differentiation in two subjects with ambiguous genitalia, Mullerian structures, and normally developed testes: evidence for a defect in gonadal ridge development.Semantic proximity Read ↗

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

Molecular analysis of SRY gene in patients with mixed gonadal dysgenesis.Semantic proximity Read ↗

Detection of SRY in 45,X/47,XYY mosaicism leading to phenotypic female.Semantic proximity Read ↗

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