Which types of tumors and cancers are associated with Klinefelter syndrome?

Updated: Mar 23, 2020
  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Answer

Mediastinal tumors may occur in young patients, presenting as precocious puberty; histologically, these neoplasms are classified as mixed germ cell tumors. Mediastinal tumors in older males present with thorax-associated symptoms, primarily chest pain, dyspnea, and cough; mixed germ cell tumors are more common, but teratomas and other mixed tumors occur. [23]

Breast cancer and testicular cancer are reported, although a clear relationship between Klinefelter syndrome and testicular cancer has not been documented.


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