Common Health Issues
Please be aware that those affected by KS are prone to conditions more usually associated with women – eg osteoporosis, breast cancer, autoimmune conditions, urinary tract infections.
Osteoporosis is present in up to 40% of subjects with KS and has usually been attributed to low testosterone levels. However, reduced bone mass might also be present in KS adults with normal testosterone levels and testosterone replacement therapy does not always restore bone density in KS patients.
Hypogonadism represents one of the most important causes of male osteoporosis. Early onset of testosterone deficiency, as observed in Klinefelter’s syndrome (KS), is an important risk factor for precocious osteoporosis.
Testosterone regulates male bone metabolism both indirectly by aromatization to estrogens and directly through the androgen receptor (AR) on osteoblasts, promoting periosteal bone formation during puberty and reducing bone resorption during adult life. Possible new determinants for osteoporosis in KS might be related to the AR function and insulin-like factor 3 (INSL3) levels.
The incidence of diabetes type 1 and 2 associated with Klinefelter’s Syndrome (KS) is significantly higher than in the general population, although the reason for this isn’t fully understood.
Although most autoimmune diseases predominately affect women, those with KS appear to have an increased risk compared to XY males.
A study of patients with lupus indicated that KS/XXY adults have the same risk as females.
It is thought that this increased risk may be related to the the extra chromosome.
Other autoimmune diseases include rheumatoid arthritis, psoriasis and inflammatory bowel syndrome (IBS).
Varicose veins, leg ulcers, deep vein thrombosis and pulmonary embolism are significantly more common in KS adults than the general population. It is thought that this may be due to the extra chromosome rather than the absence of testosterone.
Many adults with KS complain of an involuntary shaking of the hands or ‘essential tremor’. In some cases this can be so bad that use of a computer mouse or keyboard is impossible.
Testosterone treatment may have a positive effect.
Many also have an unbalanced gait.
There is an increased risk of conditions such as chronic bronchitis although the reason for this isn’t known.
Depression is quite common. Some find that testosterone replacement can help.
This is caused by the muscles and soft tissues in the throat relaxing sufficiently to cause a total blockage of the airway. Poor muscle tone may be a contributory factor.
Taurodontism is rare condition which appears to be more prevalent in those with KS. Taurodontism mainly affects the development of the molar teeth in such a way that the body of the tooth is enlarged. As it may not show up in an examination without an x-ray, your patient should be advised to tell their dentist about KS.
Although KS adults are less likely to suffer from prostate cancer, when using testosterone their risk factor increases to that of an XY male. The prostate should be examined before treatment starts The prostate should be examined before treatment starts. PSA levels should then be checked after a year then every 1 to 3 years.