Two SRY-negative XX male brothers without genital ambiguity.
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.
Zenteno
J C
JC
Servicio de Genética, Hospital General de México-Facultad de Medicina, UNAM, México, D. F., México.
López
M
M
Vera
C
C
Méndez
J P
JP
Kofman-Alfaro
S
S
D000328:Adult; D002503:Centromere / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D007621:Karyotyping; D051741:Kruppel-Like Transcription Factors; D008297:Male; D008800:Mexico; D008957:Models, Genetic; D009679:Nuclear Family; D009687:Nuclear Proteins; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D014960:X Chromosome / Q000235:genetics*; D014998:Y Chromosome / Q000235:genetics
D004268:DNA-Binding Proteins; D051741:Kruppel-Like Transcription Factors; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; C054430:ZFY protein, human