47,XXY female with testicular feminization and positive SRY: a case report.
BACKGROUND
Males with a 47,XXY karyotype have the clinical phenotype of Klinefelter syndrome. A few 47,XXY cases with a female phenotype have been reported. These individuals have positive SRY (testis-determining factor). The genetic explanation of this phenomenon is unclear.


METHODS
A 34-year-old woman presented with testicular feminization and a 47,XXY karyotype. Cytogenetic analysis and fluorescence in situ hybridization suggested that the Y chromosome had a normal structure; the polymerase chain reaction was positive for SRY.


CONCLUSIONS
This is the third reported case of 47,XXY with afemale phenotype in spite of the presence of a Y chromosome and the normal SRY. This suggests that the phenotypic sex in these patients might be due to the involvement of other sex-determining genes.
Saavedra-Castillo
Eloisa
E
Departments of Endocrinology and Genetics, Centro de Investigación Biomédica del Noreste, Instituto Mexicano del Seguro Social, Monterrery, Nuevo Leon, Mexico.
Cortés-Gutiérrez
Elva I
EI
Dávila-Rodríguez
Martha I
MI
Reyes-Martínez
María Eugenia
ME
Oliveros-Rodríguez
Amalia
A
D000328:Adult; D013734:Androgen-Insensitivity Syndrome / Q000175:diagnosis* / Q000235:genetics*; D001483:Base Sequence; D002869:Chromosome Aberrations; D041322:Chromosomes, Human, Y; D005260:Female; D005500:Follow-Up Studies; D024282:Genes, sry / Q000235:genetics*; D006801:Humans; D017403:In Situ Hybridization; D007621:Karyotyping; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction