The sole presence of the testis-determining region of the Y chromosome (SRY) in 46,XX patients is associated with phenotypic variability

Horm Res. 1992;37(6):236-40. doi: 10.1159/000182319.


Four cases of XX patients with testis development are reported. The aim of this study was to describe their clinical features and to see if there was any relationship between phenotypes and the presence of Y material. Several human Y-derived sequences including the SRY probe were used to analyze the DNA of the patients. Yp material including the pseudo-autosomal region and SRY was detected. The cases reported in this study confirm that XX true hermaphrodites cannot be distinguished from XX males on the basis of their genotypes. There is no relationship between clinical and anatomical phenotypes and the presence of Y material. SRY does not warrant a complete and normal testis differentiation. Although similar in some features with Klinefelter's syndrome patients, XX males exhibit specific clinical manifestations due to the lack of Y-specific genes.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Base Sequence
  • Child
  • Child, Preschool
  • DNA / genetics
  • DNA Probes
  • Disorders of Sex Development / genetics
  • Disorders of Sex Development / pathology
  • Female
  • Genotype
  • Humans
  • Male
  • Molecular Sequence Data
  • Phenotype
  • Sex Determination Analysis*
  • Sex Differentiation / genetics*
  • Testis / growth & development*
  • Translocation, Genetic
  • X Chromosome
  • Y Chromosome


  • DNA Probes
  • DNA