What treatments are available?
There is no cure for Klinefelter Syndrome (KS). However there are treatments available for the problems associated with the condition.
Fertility therapies
For some men with KS who have no sperm in their semen, it is possible to take sperm directly from the testes with surgery called microscopic testicular sperm extraction (microTESE). The sperm can then be frozen or used immediately for in vitro fertilisation. In patients receiving TRT, it has been suggested that testosterone therapy should be stopped for 6-9 months before undergoing microTESE, to improve sperm retrieval rates. For some men, hormonal manipulation with stimulatory drugs is sometimes tried before this procedure.
Not all patients will have sperm retrieved, but evidence suggests that younger patients have a greater chance of success. An alternative is to consider donor sperm for fertility treatment, or adoption.
The lack of sperm does not affect the ability to have sexual intercourse, and the physical sex life of men with KS is usually normal.
Funding for fertility therapy will depend on your Care Commissioning Group (CCG). Details on how to find your local CCG are here:
https://www.england.nhs.uk/ccg-directory
More information will be provided for you in the clinic about the processes in place for fertility funding. For young patients, the clinic provides an opportunity to discuss present and future fertility issues as well.
Testosterone Replacement Therapy (TRT)
TRT involves testosterone administered as gels, skin patches or injections. Gel preparations are popular as they work well and are easy to use, avoiding the need for injections, particularly in children. Testosterone replacement may be considered once puberty begins, to support development of male characteristics, such as facial and body hair, increased muscle mass, deepening voice and reduced body fat. It may also help to improve energy levels. TRT is also an option in adulthood and may help to prevent osteoporosis and improve low mood, concentration levels, energy levels, libido and self-esteem.
TRT does not improve sperm production and, if fertility is important, TRT should be delayed until after fertility issues have been addressed. Testosterone in excess can lead to health issues such as liver problems, increased red cell blood count (which can cause stroke or heart problems), and in the long term urinary problems. TRT requires careful monitoring, however many men safely receive this treatment under supervision of their doctor.
Increased aggression and mood swings can also be seen and it can take some time to find the right dose for each individual patient.
Cognitive, physical and other therapies
Speech and language therapy can be offered during childhood to aid speech development, as well as educational and behavioural support at school for children with learning and behavioural difficulties. Psychological support is also available for KS patients affected by mental health issues. Our Young Person’s clinic has clinical, educational and neurodevelopmental psychologists who can help our young patients & their parents and we also have specialist psychosexual clinicians (in adults and young persons clinics).
Physiotherapy can help to improve muscle mass and strength, and occupational therapy for co-ordination difficulties associated with the condition. For those with excess breast tissue (gynaecomastia), breast reduction surgery may be offered if this does not resolve with optimised testosterone therapy.
Endocrine management
Endocrinology is the management of problems with hormones. For KS patients, other than the risks of low testosterone, patients also have an increased risk of diabetes and osteoporosis (weak bones). There is also evidence that thrombo-embolic (abnormal blood clotting) events like deep vein thrombosis (DVT) are more common in KS. As a result, input from a medical specialist, specifically an endocrinologist, is needed to make sure you remains healthy.
Endocrinologists and urologists both manage testosterone replacement therapy for the patient. The clinic will provide an opportunity to discuss how to optimise this, especially in combination with fertility management.
What happens if I do not receive treatment?
Many men with KS who do not receive treatment live normal, healthy lives. As men with KS are at slightly higher risk of other conditions, long-term follow-up can help to prevent these. The condition cannot be inherited by children of men with KS, even if assisted fertility techniques have been used.
Is there anything I can do to help myself?
KS is to do with your genes so lifestyle changes cannot cause or cure it. However, leading an active and healthy lifestyle may improve symptoms of low testosterone, and may reduce the risk of developing conditions such as Type 2 diabetes, osteoporosis, cardiovascular disease, blood clots, mental health conditions, and breast cancer that KS is associated with.
Healthy lifestyle changes such as stopping smoking, keeping alcohol intake within recommended limits, maintaining a well-balanced diet, maintaining a healthy weight, and taking part in regular exercise can improve symptoms of low testosterone and reduce the risk of developing KS-associated conditions. Smoking, low calcium intake, and lack of exercise are particularly associated with an increased risk of developing osteoporosis, and it is recommended that men with KS attend DEXA scans (a scan that measures bone density) to check for any changes to their bones.
Our clinic will also include patient liaisons and a member of the Klinefelter Association (often a previous patient of the clinic) who can share with you how they manage and live with KS. More information on the Klinefelter Association can be found on this link here.