Summary
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.
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Pierella, P., Craig, I., Bobrow, m. et al. Steroid sulphatase levels in XX males, including observations on two affected cousins. Hum Genet 59, 87–88 (1981). https://doi.org/10.1007/BF00278863
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DOI: https://doi.org/10.1007/BF00278863