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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Centromere / genetics
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DNA-Binding Proteins / genetics*
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Female
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Humans
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Hypogonadism / genetics*
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Karyotyping
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Kruppel-Like Transcription Factors
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Male
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Mexico
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Models, Genetic
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Nuclear Family
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Nuclear Proteins*
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Pedigree
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Sex Chromosome Aberrations / genetics*
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Sex-Determining Region Y Protein
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Transcription Factors*
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X Chromosome / genetics*
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Y Chromosome / genetics
Substances
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DNA-Binding Proteins
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Kruppel-Like Transcription Factors
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Nuclear Proteins
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SRY protein, human
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Sex-Determining Region Y Protein
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Transcription Factors
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ZFY protein, human