Premium
46, XX male sex reversal syndrome: a case report and review of the genetic basis
Author(s) -
Wang T.,
Liu J. H.,
Yang J.,
Chen J.,
Ye Z. Q.
Publication year - 2009
Publication title -
andrologia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.633
H-Index - 59
eISSN - 1439-0272
pISSN - 0303-4569
DOI - 10.1111/j.1439-0272.2008.00889.x
Subject(s) - testis determining factor , y chromosome , sex reversal , autosome , biology , chromosome , x chromosome , genetics , chromosomal translocation , disorders of sex development , gene
Summary 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.