Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information
    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.

    Source

    Division of Endocrinology, Diabetes and Metabolism, University of South Carolina School of Medicine, Two Medical Park, Suite 502, Columbia, SC 29203, USA. arizvi@gw.mp.sc.edu

    Abstract

    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.

    PMID:
    18414071
    [PubMed - indexed for MEDLINE]

      Supplemental Content

      Icon for Lippincott Williams & Wilkins

      Save items

      Recent activity

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...
      Write to the Help Desk