Klinefelter's syndrome associated with testicular microlithiasis and mediastinal germ-cell neoplasm

J Clin Ultrasound. 1997 Nov-Dec;25(9):508-10. doi: 10.1002/(sici)1097-0096(199711/12)25:9<508::aid-jcu9>3.0.co;2-r.

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Calculi / complications
  • Calculi / diagnostic imaging*
  • Humans
  • Klinefelter Syndrome / complications
  • Klinefelter Syndrome / diagnostic imaging*
  • Male
  • Mediastinal Neoplasms / complications
  • Mediastinal Neoplasms / diagnostic imaging*
  • Neoplasms, Germ Cell and Embryonal / complications
  • Neoplasms, Germ Cell and Embryonal / diagnostic imaging*
  • Neoplasms, Multiple Primary
  • Testicular Diseases / complications
  • Testicular Diseases / diagnostic imaging*
  • Tomography, X-Ray Computed
  • Ultrasonography