Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 06-12-2014
Symbol GDXY
Location Yp11.3
Name gonadal dysgenesis, XY , SRY-related
Other name(s)
  • Swyer syndrome
  • male to female sex reversal
  • disorder of sex development, 46,XY
  • Corresponding gene SRY
    Other symbol(s) TDFX, XYDSD
    Main clinical features
  • failure of the indifferent gonad to develop into a testis.
  • at puberty, no development of secondary sexual characteristics, amenorrhea and streak gonads.
  • Genetic determination other
    Function/system disorder sex-genitalia
    Type other
    Gene product
    Name sex determining factor (SRY)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     About 46 mutations have been identified within the open reading frame of the SRY gene. Primarily, these mutations are within the HMG box.
    Remark(s)
  • Mutations in the SRY gene have been found to account for approximately 15% of cases with male to female sex reversal. Most are de novo mutations affecting only one individual in a family.
  • Genotype/Phenotype correlations
  • The phenotype of an individual with an SRY mutation is either XY-female or normal fertile male, depending on the moment of testicular degeneration. Mutations that lie outside the HMG box have different effects on the phenotype of the patients.