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Am J Med Sci. 2008 Apr;335(4):307-9. doi: 10.1097/MAJ.0b013e31811ec1b4.

46, XX man with SRY gene translocation: cytogenetic characteristics, clinical features and management.

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  • 1Division of Endocrinology, Diabetes and Metabolism, University of South Carolina School of Medicine, Two Medical Park, Suite 502, Columbia, SC 29203, USA.


This report describes a well-masculinized 33-year-old man with infertility and primary hypogonadism in whom chromosomal evaluation revealed a 46, XX karyotype. This syndrome is a rare but important cause of hypergonadotropic hypogonadism in which the diagnosis can be delayed or missed. A review of the cytogenetic basis and clinical features is presented to raise awareness of this entity among clinicians and to emphasize the importance of appropriate laboratory testing when indicated.

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