Steroid sulphatase levels in XX males, including observations on two affected cousins

Hum Genet. 1981;59(1):87-8. doi: 10.1007/BF00278863.

Abstract

Quantitative assays of steroid sulphatase in XX males have shown that some individuals have two functional loci, and others only one. Two affected cousins, who cannot share the same X-chromosome, nevertheless have male levels of steroid sulphatase, suggesting functional abnormality of the X chromosome. The hypothesis is advanced that these and other unusual features of X-chromosome function in some XX males, could be explained if such cases were due to an autosomal mutation, exercising its effect by causing abnormal inactivation of a subterminal area of Xp which normally escapes the inactivation process.

MeSH terms

  • Arylsulfatases / analysis*
  • Female
  • Humans
  • Male
  • Sex Chromosome Aberrations*
  • Sex Differentiation / genetics*
  • Steryl-Sulfatase
  • X Chromosome*

Substances

  • Arylsulfatases
  • Steryl-Sulfatase