Abstract
We report a Mexican family in which two sibs were identified as “classic” XX males without genital ambiguities. Molecular studies revealed that both patients were negative for several Y sequences, including SRY. A review of familial cases disclosed that this is the first family where a complete male phenotype was observed in Y-negative XX male non-twin brothers. These data suggest that an inherited loss-of-function mutation, in a gene participating in the sex-determining cascade, can induce normal male sexual differentiation in the absence of SRY.
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Received: 5 March 1997 / Accepted: 9 May 1997
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Zenteno, J., López, M., Vera, C. et al. Two SRY-negative XX male brothers without genital ambiguity. Hum Genet 100, 606–610 (1997). https://doi.org/10.1007/s004390050561
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DOI: https://doi.org/10.1007/s004390050561