Detection of SRY in a 46,XY female (Swyer's syndrome)

A Imai; S Horibe; T Fuseya; H Takagi; T Tamaya

Detection of SRY in a 46,XY female (Swyer's syndrome)

J Med. 1997;28(1-2):49-54.

Authors

A Imai¹, S Horibe, T Fuseya, H Takagi, T Tamaya

Affiliation

¹ Department of Obstetrics and Gynecology, Gifu University School of Medicine, Japan.

PMID: 9249610

Abstract

We describe sex reversal in a phenotypic female with 46,XY and SRY gene. Evidence accumulated here in the Swyer's syndrome may provide a better opportunity to study aberrations of gonadal development in man.

Publication types

Case Reports

MeSH terms

Adolescent
Base Sequence
DNA Primers / genetics
DNA-Binding Proteins / genetics*
Female
Gonadal Dysgenesis, 46,XY / diagnosis
Gonadal Dysgenesis, 46,XY / genetics*
Humans
Male
Mutation
Nuclear Proteins*
Phenotype
Polymerase Chain Reaction
Sex Determination Analysis
Sex Differentiation
Sex-Determining Region Y Protein
Transcription Factors*
Y Chromosome / genetics

Substances

DNA Primers
DNA-Binding Proteins
Nuclear Proteins
SRY protein, human
Sex-Determining Region Y Protein
Transcription Factors