46, XX man with SRY gene translocation: cytogenetic characteristics, clinical features and management
AA Rizvi - The American journal of the medical sciences, 2008 - Elsevier
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.
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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