title: 46, XX male sex reversal syndrome: a case report and review of the genetic basis.
abstract: Sex reversal syndrome is a kind of human genetic disease about gender dysplasia, which is characterised by inconsistency between gonadal sexuality and chromosome sexuality; the incidence rate was about 1:20,000-100,000. The clinical manifestations, hormonal levels and cytogenetic findings in a patient of 46, XX male sex reversal syndrome retrospectively were analysed and related published reports were reviewed. The DNA fragments of sex-determining region Y (SRY) gene from the patient was found by polymerase chain reaction, but the fluorescent in situ hybridisation analysis revealed that the SRY translocated from Y to X chromosome. We concluded that the Y chromosomal SRY gene is required for the regulation of male sex determination. The detection of SRY is important for the clinical diagnosis of sex reversal syndrome. Translocation of SRY to X chromosome or other autosomes would be one of the key factors that induced XX male SRS.
authors.affiliation: Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: T
authors.initials: T
authors.lastname: Wang
authors.forename: J H
authors.initials: JH
authors.lastname: Liu
authors.forename: J
authors.initials: J
authors.lastname: Yang
authors.forename: J
authors.initials: J
authors.lastname: Chen
authors.forename: Z Q
authors.initials: ZQ
authors.lastname: Ye
mesh_terms: D005260:Female; D023961:Gonadal Dysgenesis, 46,XX / Q000235:genetics*; D006801:Humans; D008297:Male; D051876:Sex-Determining Region Y Protein / Q000235:genetics*; D055815:Young Adult
chemical_list: D051876:Sex-Determining Region Y Protein