title: Klinefelter's syndrome associated with testicular microlithiasis and mediastinal germ-cell neoplasm.
abstract: Klinefelter's syndrome is a genetic disorder of male sexual differentiation characterized by an XXY karyotype. Although considered a benign condition, it is associated with several types of malignancies, including mediastinal germ-cell neoplasm. In addition, Klinefelter's syndrome has been rarely associated with testicular microlithiasis. Whereas patients with Klinefelter's syndrome have an increased incidence of extragonadal germ-cell neoplasms, patients with testicular microlithiasis have a predisposition to testicular germ-cell neoplasms. To our knowledge, an extragonadal germ-cell neoplasm has not been previously described in association with testicular microlithiasis. We present a patient with 2 unusual conditions, both of which are independently associated with Klinefelter's syndrome: mediastinal germ-cell neoplasm and testicular microlithiasis.
authors.affiliation: Department of Radiology, University of Illinois Hospital, Chicago 60612, USA.
authors.forename: R I
authors.initials: RI
authors.lastname: Aizenstein
authors.forename: J F
authors.initials: JF
authors.lastname: Hibbeln
authors.forename: B
authors.initials: B
authors.lastname: Sagireddy
authors.forename: A C
authors.initials: AC
authors.lastname: Wilbur
authors.forename: H K
authors.initials: HK
authors.lastname: O'Neil
mesh_terms: D000293:Adolescent; D002137:Calculi / Q000150:complications / Q000000981:diagnostic imaging*; D006801:Humans; D007713:Klinefelter Syndrome / Q000150:complications / Q000000981:diagnostic imaging*; D008297:Male; D008479:Mediastinal Neoplasms / Q000150:complications / Q000000981:diagnostic imaging*; D009373:Neoplasms, Germ Cell and Embryonal / Q000150:complications / Q000000981:diagnostic imaging*; D009378:Neoplasms, Multiple Primary; D013733:Testicular Diseases / Q000150:complications / Q000000981:diagnostic imaging*; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography