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Complications associated with Klinefelter's syndrome

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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.

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