’s syndrome may benefit from specialised fertility treatment to increase their chance of having children.
In individuals with Klinefelter’s syndrome who have developed breast enlargement, this sometimes becomes permanent. In these cases, surgery may be offered to restore normal male appearances.
Physical and occupational therapy may be helpful in affected boys with coordination and muscle problems.
Speech and behavioural therapy can help with speech difficulties, developing language skills, confidence issues and academic problems. It is important that these interventions are implemented as early as possible during childhood.
Are there any side-effects to the treatment?
Testosterone replacement is generally well-tolerated. Care must be taken when given to anyone with prostate problems. While on testosterone replacement therapy, a blood test is performed at least annually to check testosterone levels, blood count and also the health of the prostate (in men over 50 years of age). If testosterone replacement therapy is given by topical gel, this can sometimes lead to irritation of the skin at the site of application. If given by intramuscular injection, this can rarely cause pain and swelling at the site of the injection.
Less common side-effects include headache, mood change, nausea, jaundice, increased red blood cells, high blood pressure and fluid retention.
What are the longer-term implications of Klinefelter’s syndrome?
Adults with Klinefelter’s syndrome are more likely to have a number of health issues such as osteoporosis; obesity; varicose veins and leg ulcers; development of autoimmune conditions (diabetes mellitus, systemic lupus erythematosus, thyroid problems); chest conditions (bronchitis and emphysema); and there may be an increase in some cancers (breast cancer, germ cell tumours, non-Hodgkin’s lymphoma). Men with Klinefelter’s syndrome are also thought to be at an increased risk of developing chronic health problems such as diabetes, cardiovascular, respiratory and gastrointestinal disease. All people with Klinefelter’s syndrome should therefore have regular check-ups during adult life, ideally in a specialist endocrinology clinic, both to monitor their general health and particularly to monitor testosterone replacement therapy.
Fertility problems are common in men with Klinefelter’s syndrome. However, more recent specialised fertility techniques such as microsurgical testicular sperm extraction and intracytoplasmic sperm injection have helped some men with Klinefelter’s syndrome to father children. If patients have any concerns, they should discuss them with their doctor.
Reviewed: December 2014