Klinefelter's syndrome associated with testicular microlithiasis and mediastinal germ-cell neoplasm.
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.
Aizenstein
R I
RI
Department of Radiology, University of Illinois Hospital, Chicago 60612, USA.
Hibbeln
J F
JF
Sagireddy
B
B
Wilbur
A C
AC
O'Neil
H K
HK
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