SRY alone can induce normal male sexual differentiation.
Most individuals with the rare 46,XX male "syndrome" arise due to an unequal interchange between Xp and Yp termini during paternal meiosis. The pattern of Y-sequences in these patients varies considerably, but very few cases have been reported showing only SRY. The phenotype in these patients is also variable ranging from severe impairment of the external genitalia through hypospadias and/or cryptorchidism to occasional normal male phenotype. We report a Mexican 46,XX male patient without genital ambiguities in whom DNA analysis showed the presence of SRY and the absence of ZFY. We conclude that in this case SRY alone was enough for complete male sexual differentiation.
López
M
M
Servicio Genética, HGM SSa, Facultad de Medicina, UNAM, Mexico.
Torres
L
L
Méndez
J P
JP
Cervantes
A
A
Alfaro
G
G
Pérez-Palacios
G
G
Erickson
R P
RP
Kofman-Alfaro
S
S
D004268:DNA-Binding Proteins / Q000032:analysis / Q000235:genetics* / Q000502:physiology; D012734:Disorders of Sex Development / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics; D005260:Female; D006801:Humans; D051741:Kruppel-Like Transcription Factors; D008297:Male; D009687:Nuclear Proteins; D009845:Oligospermia / Q000235:genetics; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D012733:Sex Differentiation / Q000235:genetics*; D051876:Sex-Determining Region Y Protein; D013576:Syndactyly / Q000235:genetics; D013737:Testis / Q000002:abnormalities; D014157:Transcription Factors
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