Merck Manual Professional Version. Klinefelter syndrome KS. Genetic and Rare Diseases Information Center. Bearelly P, et al. Recent advances in managing and understanding Klinefelter syndrome. Ferri FF. In: Ferri's Clinical Advisor Elsevier; Hererra Lizarazo A, et al. Endocrine aspects of Klinefelter syndrome. Current Opinion in Endocrinology, Diabetes and Obesity.
Wick MJ expert opinion. Mayo Clinic. Deng C, et al. Clinical application of noninvasive prenatal screening for sex chromosome aneuploidies in 50, pregnancies: Initial experience in a Chinese hospital. Scientific Reports. Mayo Clinic Laboratories. Cell-free DNA prenatal screen, blood. Accessed Sept. Klinefelter syndrome. Klinefelter syndrome affects around 1 in every males. Symptoms of Klinefelter syndrome Klinefelter syndrome does not usually cause any obvious symptoms early in childhood, and even the later symptoms may be difficult to spot.
Many boys and men do not realise they have it. Possible features, which are not always present, may include: in babies and toddlers — learning to sit up, crawl, walk and talk later than usual, being quieter and more passive than usual in childhood — shyness and low self-confidence, problems with reading, writing, spelling and paying attention, mild dyslexia or dyspraxia , low energy levels, and difficulty socialising or expressing feelings in teenagers — growing taller than expected for the family with long arms and legs , broad hips, poor muscle tone and slower than usual muscle growth, reduced facial and body hair that starts growing later than usual, a small penis and testicles, and enlarged breasts gynaecomastia in adulthood — inability to have children naturally infertility and a low sex drive , in addition to the physical characteristics mentioned above Health issues in Klinefelter syndrome Most boys and men with Klinefelter syndrome will not be significantly affected and can live normal, healthy lives.
Infertility tends to be the main problem, although there are treatments that can help. But men with Klinefelter syndrome are at a slightly increased risk of developing other health problems, including: type 2 diabetes weak and fragile bones osteoporosis cardiovascular disease and blood clots autoimmune disorders where the immune system mistakenly attacks the body , such as lupus an underactive thyroid gland hypothyroidism anxiety , learning difficulties and depression — although intelligence is usually unaffected male breast cancer — although this is very rare These problems can usually be treated if they do occur and testosterone replacement therapy may help reduce the risk of some of them.
Causes of Klinefelter syndrome Klinefelter syndrome is caused by an additional X chromosome. Testing for Klinefelter syndrome See your GP if you have concerns about your son's development or you notice any troubling symptoms of Klinefelter syndrome in yourself or your son.
In many cases, it's only detected if a man with the condition undergoes fertility tests. Treatments for Klinefelter syndrome There's no cure for Klinefelter syndrome, but some of the problems associated with the condition can be treated if necessary. Possible treatments include: testosterone replacement therapy speech and language therapy during childhood to help with speech development educational and behavioural support at school to help with any learning difficulties or behaviour problems occupational therapy to help with any co-ordination problems associated with dyspraxia physiotherapy to help build muscle and increase strength psychological support for any mental health issues fertility treatment — options include artificial insemination using donor sperm or possibly intracytoplasmic sperm injection ICSI , where sperm removed during a small operation are used to fertilise an egg in a laboratory breast reduction surgery to remove excess breast tissue Testosterone replacement therapy TRT TRT involves taking medicines containing testosterone.
You should see a specialist in children's hormones a paediatric endocrinologist at this time. More information and support If you or your son has been diagnosed with Klinefelter syndrome, you might find it useful to find out more about it and get in touch with others affected by it. Differences in boys with Klinefelter syndrome can range from mild to severe.
Some guys have few or no obvious signs. Other times, Klinefelter syndrome interferes with speech, learning, and development. Boys with Klinefelter syndrome may have difficulty with spelling, reading, writing, and paying attention. They may tend to be quiet, shy, and more reserved or sensitive than other guys. Some boys with Klinefelter syndrome are less interested in sports or physical activities.
Since high-school life often revolves around schoolwork and sports, guys with Klinefelter may feel like they don't fit in or lack self-confidence. But, as men, most have normal friendships and relationships. Most teens with Klinefelter syndrome aren't likely to have major health problems. But the condition can bring challenges later in life. For example, guys with Klinefelter syndrome may be more likely to get some types of cancer and other diseases, like type 2 diabetes and osteoporosis, a condition where the bones become weaker later in life.
As men, most guys with Klinefelter syndrome can have sex, usually with the help of testosterone treatment. But problems with their testicles prevent them from making enough normal sperm to father children. Fertility researchers are working on new treatments. By the time a teen with Klinefelter syndrome is ready to become a dad, there may be new options available related to the extraction of sperm from the testicles.
The earlier a guy finds out about Klinefelter syndrome, the better. Treatments are most effective if they start while a guy is still young. So if you're worried about your development, talk to your doctor. It might be nothing, but it's always best to know, especially because Klinefelter syndrome can be hard to notice.
To diagnose a guy with Klinefelter syndrome, doctors usually begin by asking about any learning or behavior issues and examining the testicles and body proportions.
They'll check a blood sample for the presence of the extra X chromosome. Doctors also can do hormone testing, usually by taking a blood sample to check for abnormal hormone levels.
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