June 16th, 2019

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47,XXY Female with Testicular Feminization and Positive SRY: A Case Report
Authors:  Eloisa Saavedra-Castillo, M.D., Elva I. CortČs-GutiČrrez, Ph.D., Martha I. D·vila-RodrĖguez, Ph.D., MarĖa Eugenia Reyes-MartĖnez, M.D., and Amalia Oliveros-RodrĖguez, M.D.
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 re-
ported. These individuals have positive SRY (testis-
determining factor). The genetic explanation of this phenomenon is unclear.

CASE: 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.

CONCLUSION: This is the third reported case of 47,XXY with a female 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. (J Reprod Med 2005;50:138-140)
Keywords:  testicular feminization; sex chromosome aberrations; gene, sry
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