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A New Female Case with 47,XXY Karyotype and SRY

Hasan Acar, Hakan Taskapu, M. Hamza Muslumanoglu and Metin Çapar

Objective: Numerical abnormalities of sex chromosome, 47,XXY karyotype, have the clinical phenotype of Klinefelter syndrome. Very few 47,XXY cases with a female phenotype have been reported. The testicular feminization syndrome is a female phenotype with a male karyotype (46,XY). Most of these cases have SRY positive SRY (testis-determining factor). The genetic explanation of this phenomenon is not very clear. Methods: Clinical examination, conventional cytogenetic analysis, fluorescence insitu hybridization and molecular genetic analysis polymerease chain reaction were done on a 17 year old female patient. Results: Clinical examination revealed that the case had a female external genitalia, breast development and pubic hair. Some clinical findings of the patients are unique and not similar to the other cases reported in the literature. The present case has different clinical features including normal phenotype, breast development and normal gentelia, tubes, ovaries, but hypoplastic uterus. Cytogenetic analysis and fluorescence in situ hybridization revealed that the Y chromosome was normal; both fluorescence in situ hybridization (FISH) and the polymerase chain reaction (PCR) shown the presence of SRY gene. However, PCR analysis revealed the deleted sequences of AZF region. Conclusion: This is a new distinct female case with 47,XXY in spite of the presence of a Y chromosome and the normal SRY. Undertake published cases in the literature and present case, each case should be considered as a different identity in female phenotype with 47,XXY karyotype and SRY, but the deletion of AZF region on the long arm of chromosome Y.