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.

Inclusion criteria

• diagnosis of klinefelter

Exclusion criteria

• klinefelter subjects with a history of hip or waist surgery or trauma
• for control group with known bone disease, unknown fertility hypogonadism findings on physical examination (e.g. low testicular volume or abnormal body hair), known hypogonadism, previous androgen replacement therapy any drug therapy affecting bone metabolism