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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References
Cattanach BM, Pollard CE, Hawkes SG (1971) Sex-reversed mice: XX and XO males. Cytogenet Cell Genet 10:318–337
de la Chapelle A (1972) Analytic review: nature and origin of males with XX sex chromosomes. Am J Hum Genet 24:71–105
de la Chapelle A, Koo GC, Wachtel SS (1978) Recessive sex-determining genes in human XX male syndrome. Cell 15:837–842
de la Chapelle A, Simola K, Simola P, Knuutila S, Gahmberg N, Pajunen L, Lundqvist C, Sarna S, Murros J (1979) Heteromorphic X chromosomes in XX males? Hum Genet 52:157–167
de la Chapelle A (1981) The etiology of maleness in XX men. Hum Genet 58:105–116
Evans HJ, Buckton KE, Spowart G, Carothers AD (1979) Heteromorphic X chromosomes in 46,XX males: evidence for the involvement of X-Y interchange. Hum Genet 49:11–31
Ferguson-Smith MA (1966) X-Y chromosomal interchange in the aetiology of true hermaphrodism and of XX Klinefelter's syndrome. Lancet II:475–476
Ford CE (1961) Die Zytogenese der Intersexualität des Menschen. In: Overzier C (ed) Die Intersexualität. Georg Thieme Verlag, Stuttgart, pp 90–121
Mohandas T, Shapiro LJ, Sparkes RS, Sparkes MC (1979) Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: implications for a noninactivated region on the short arm of human X-chromosome. Proc Natl Acad Sci USA 76:5783–5799
Muller CR, Migl B, Traupe H, Ropers HH (1980) X-linked steroid sulphatase: evidence for different gene dosage in males and females. Hum Genet 54:197–199
Polani PE, Angell R, Giannelli F, de la Chapelle A, Sanger R (1970) Evidence that the Xg locus is inactivated in structurally abnormal X chromosomes. Nature 227:613–616
Ropers HH, Migl B, Zimmer J, Muller CR (to be published a) Steroid sulfatase activity in cultured fibroblasts of XX males. Cytogenet Cell Genet
Ropers HH, Migl B, Zimmer J, Fraccaro M, Maraschio PP, Westerveld A (to be published b) Hum Genet
Soller M, Padeh B, Wysoki M, Ayalon N (1969) Cytogenetics of Saanen goats showing abnormal development of the reproductive tract associated with the dominant gene for polledness. Cytogenet Cell Genet 8:51–62
Wolf U, Fraccaro M, Mayerova A, Hecht T, Maraschio P, Hameister H (1980) A gene controlling H-Y antigen on the X chromosome. Tentative asignment by deletion mapping to Xp223. Hum Genet 54:149–154
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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