As there is no cure for Klinefelter syndrome, the treatment of the condition focuses on improving symptoms and providing support to the individual. Treatment should be commenced as soon as possible following diagnosis to minimize complications associated with the condition.
Therapy often involves a multidisciplinary team to address the various aspects of the condition, including an endocrinologist, pediatrician, speech therapist, physical therapist, occupational therapist, psychologist and infertility specialist.
Hormonal androgen therapy is the most important part of treatment that helps to increase testosterone levels and induce the natural changes at the usual age of puberty (approximately 12 years). This can help to increase physical strength, facial hair growth, libido and testicle size. It also can improve mood, self-confidence and behavior of the man.
The dose needs to be tailored to the individual to sufficiently maintain the appropriate concentrations of testosterone, estradiol, follicle-stimulating hormone (FSH) and luteinizing hormone (LH) for the man’s appropriate age. There are various formulations available, including an injection, gel or patch. The treatment will need to continue for the lifetime of the patient to maintain control over the symptoms.
Not all males with Klinefelter syndrome will require testosterone therapy. Some patients only have a slightly reduced level of testosterone, and the benefits of therapy may not justify the risk of the medication. Side effects of hormonal androgen therapy may include acne, skin rash, breathing problems and increased risk of enlarged prostate gland or prostate cancer in later years.
Until recently, the vast majority of men with Klinefelter syndrome were considered to be infertile. However, approximately half of men with the condition have the presence of sperm in their testes, which indicates the possibility of reproduction.
Advances in artificial reproductive technologies have increased the probability of affected patients having biological children. This is possible through microsurgical testicular sperm extraction (TESE) and in-vitro fertilization (IVF). Sperm is present in the testes of most men with Klinefelter syndrome and can be extracted with a surgical biopsy known as TESE. The spermatozoon can then be injected directly into an ovum with the help of IVF. As a result of these techniques, up 25% of men with Klinefelter syndrome are now able to have biological children.
There are several other treatment methods that may be useful for men with Klinefelter syndrome. These include:
Speech therapy to improve speech impairments, particularly in children
Physical therapy to improve muscle tone and motor skills
Occupational therapy to improve balance and coordination in boys with dyspraxia
Cosmetic therapy to remove unwanted breast tissue (mastectomy)
Counseling to provide emotional and psychological support
As many men with Klinefelter syndrome suffer from depression and other psychological disorders, it is important that they have good access to health support in this area. A psychologist or counselor can help patients to adjust to changes and cope with problems related to the condition and life circumstances.
Many boys also have learning difficulties and may benefit from educational support. Teachers and other people involved in children’s education should be aware of the condition and assist in improving the learning environment where possible.