Common health issues

Although this may look like a long list of health issues, few people are affected by many of them.

Up to 40% of KS/XXY folk will suffer from osteoporosis.

It is usually blamed on low testosterone levels.

However, reduced bone mass might also be present in KS/XXY adults with normal testosterone levels.

Testosterone replacement therapy does not always restore bone density or stop osteoporosis occuring in KS/XXY patients.

A healthy diet and lifestyle in childhood/adolescence can help.

For more information visit the Royal Osteoporosis Society

The incidence of diabetes type 1 and 2 associated with KS/XXY is three times higher than in the general population. The reason for this isn't fully understood.

To minimise the risk of type 2 diabetes, it is  particularly important to maintain a healthy diet. Regular exercise is also likely to help.

Autoimmune diseases predominately affect women but those with KS/XXY 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 (blood clots in veins) and pulmonary embolism (blood clots in the lung), are significantly more common in KS/XXY adults than the general population.

It is thought that this may be due to the extra chromosome rather than the absence of testosterone.

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 hormone replacement can help.

Untreated KS/XXY adults are less likely to suffer from prostate cancer than XY adults. When using testosterone their risk factor increases to that of an XY male. The prostate should be examined before treatment starts. PSA levels should then be checked after a year then every 1 to 3 years.

Particularly in the 15 to 30 age group, there is an increased risk of some cancers  such as germ cell, lung, testicular, Hodgkin lymphoma and breast cancer. 

Taurodontism is a rare condition which appears to be more common in those with KS/XXY. Its main effect is on the development of the molar teeth causing enlargement of the body of the tooth. As this may not show up in an examination without an x-ray, you should  inform your dentist that you have KS/XXY.

Sometimes the jaw is smaller than is usual. This may cause additional problems.

Oral hygiene is particularly important.

Sleep apnoae is when your breathing stops and starts while you sleep.  The airway is blocked when the muscles and soft tissue in the  throat relax too much.  

It may be caused by poor muscle tone, small lower jaw and being overweight.

It can be very serious.

Your GP can refer you to a local sleep centre.

This usually causes an involuntary shaking of the hands which can be annoying. If severe, a new treatment has just been accepted by the NHS.

Probably because of poor muscle tone, many KS/XXY folk have a rather unbalanced way of walking. Physiotherapy and keeping active will help.

In KS/XXY  the chromosomal pattern is neither male nor female – although most of those affected identify as male. However, there is an overlap between male/female anatomies – breast formation, weight distribution, lack of facial hair etc.

Ignoring this ‘overlap’ can cause physical and emotional upset, late diagnosis, and/or inappropriate treatment.

  • Auto-immune conditions such as lupus
  • breast cancer
  • urinary tract infections
  • osteoporosis

As it is repeatedly reported that KS/XXY people display female weight distribution, it may be that their calorific intake should be somewhere between the average 2,500 recommended for males and 2,000 recommended for females.

Approximately 40% of those diagnosed with KS/XXY will develop gynaecomastia – female type breast tissue. A  person with KS/XXY is 20 times more likely to develop breast cancer than an XY male. However, this is still only 70% of the female rate. In the UK, there is no provision for monitoring men for breast cancer, so the risk of someone diagnosed with KS/XXY developing it is being ignored. All KS/XXY men should be encouraged to self-examine and be shown how to do so. There are videos available on the internet. If it was widely understood that KS/XXY was an intersex condition then checks could be put in place to ensure proper monitoring to reduce the risks.

There is research which suggests that there is an increased risk of schizophrenia and paranoia associated with KS/XXY. Extreme anxiety is often noted. There may also be an increase in autism.