Steroid sulphatase levels in XX males, including observations on two affected cousins.
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.
Pierella
P
P
Craig
I
I
Bobrow
M
M
de la Chapelle
A
A
D001192:Arylsulfatases / Q000032:analysis*; D005260:Female; D006801:Humans; D008297:Male; D012729:Sex Chromosome Aberrations; D012733:Sex Differentiation / Q000235:genetics*; D043266:Steryl-Sulfatase; D014960:X Chromosome
D001192:Arylsulfatases; D043266:Steryl-Sulfatase