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Article

Intact sex determining region Y (SRY) in a patient with XY pure gonadal dysgenesis and a twin brother.

Endocrine journal - 1 Jun 1994

Tsutsumi O, Iida T, Taketani Y, Sugase M, Nakahori Y, Nakagome Y

Abstract excerpt

A patient with an apparently normal 46, XY karyotype, suffering from pure gonadal dysgenesis and of short stature was investigated. The patient, who was growth retarded, was a 30-year-old married Japanese woman with a history of primary amenorrhea and infertility with a weight of 42 kg and a heig...

Topics

Adult
Base Sequence
Body Height
Female
Gonadal Dysgenesis, 46,XY
Humans
Karyotyping
Male
Molecular Sequence Data
Phenotype
Sex Determination Analysis
Twins, Dizygotic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Y Chromosome

Source

Identifiers

PMID: 7951580
DOI: 10.1507/endocrj.41.281

Genes

SRY

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7951580-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Intact sex determining region Y (SRY) in a patient with XY pure gonadal dysgenesis and a twin brother.PMID 7951580Read ↗

Analysis of the testis-determining gene SRY in patients with XY gonadal dysgenesis.Semantic proximity Read ↗

The role of SRY in mammalian sex determination.Semantic proximity Read ↗

XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region.Semantic proximity Read ↗

Testis-determining factor and Y-linked sex reversal.Semantic proximity Read ↗

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

A novel postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis.Semantic proximity Read ↗

Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations.Semantic proximity Read ↗

A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal.Semantic proximity Read ↗

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

Two new novel point mutations localized upstream and downstream of the HMG box region of the SRY gene in three Indian 46,XY females with sex reversal and gonadal tumour formationSemantic proximity Read ↗

Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female.Semantic proximity Read ↗

Monozygotic twins of opposite sex.Semantic proximity Read ↗

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