complications associated with Klinefelter's syndrome

Last reviewed 01/2018

• there is an increased risk of acquiring breast cancer in Klinefelter subjects, with relative risk exceeding 200 times more  than in a normal individual. This may be due to high estradiol to testosterone ratio levels when compared to karyotypically normal men or due to an increased peripheral conversion of testosterone to estradiol
  
  
• endocrine complications includes:
• diabetes mellitus
• hypothyroidism
• hypoparathyrodism
  
  
• autoimmune disease conditions are more commoner, such as :
• SLE
• sjogren syndrome.
• rheumatoid arthritis
  
  
• venous stasis leading to varicose veins and leg ulcers
  
  
• decreased bone density - in almost 25% of patients with KS

Reference:

• (1) Visootsak J, Graham JM Jr. Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis. 2006;1:42.