Skeletal Health of Klinefelter Patients

Klinefelter syndrome (KS) is the most common chromosome number abnormality of men, occurring in 1/500 to 1/1000 live births . It was first described in 1942 as an endocrine disorder characterised by small, hard testicles androgen deficiency, gynaecomastia and increased follicle stimulating hormone (FSH). Osteoporosis is a progressive bone remodelling disorder in which bone loss exceeds bone formation. The resulting micro-architectural defects and bone fragility are associated with increased fracture risk and mortality. In KS, testosterone deficiency is associated with decreased bone mass and low bone mineral density (BMD) , and a positive correlation of total serum testosterone and BMD has been reported . There are some exceptions ; however, most studies have reported that KS increases the risk of osteopenia and osteoporosis compared with age-matched control groups.