Unsuspected Klinefelter syndrome diagnosed during oncologic evaluation: a case series

J Am Board Fam Pract. 2005 Mar-Apr;18(2):132-9. doi: 10.3122/jabfm.18.2.132.

Abstract

Klinefelter syndrome is an underdiagnosed chromosomal disorder that has significant implications for health and for medical management. This report presents 5 adult male patients diagnosed with previously unsuspected Klinefelter syndrome as a result of cytogenetic testing for suspected hematologic malignancies. This case series highlights the importance of maintaining a comprehensive and holistic approach to medical care. The medical, genetic, and psychosocial implications of the Klinefelter diagnosis are discussed.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biopsy, Needle
  • Bone Marrow / pathology
  • Cytogenetic Analysis / methods
  • Diagnosis, Differential
  • Hematologic Neoplasms / diagnosis
  • Humans
  • Karyotyping / methods
  • Klinefelter Syndrome / diagnosis*
  • Klinefelter Syndrome / genetics
  • Klinefelter Syndrome / therapy
  • Male
  • Medical Oncology / methods
  • Middle Aged
  • Primary Health Care / methods