Prognosis Prognosis. Babies with the 47, XXY form of Klinefelter differ little from healthy children. The results of one study on non- mosaic XXY infants younger than 2 years indicated that most XXY babies had normal external genitalia and facial features with height and weight in the normal range.
Early diagnosis of Klinefelter syndrome is shown to be important to monitor potential developmental problems. However, most move toward full independence from their families as they enter adulthood. Some have completed graduate education and have a normal level of functioning.
Lifespan is not affected by Klinefelter syndrome. Statistics Statistics. It is estimated that 1 in every to 1, newborn males has an extra X chromosome, making Klinefelter syndrome one of the most common chromosomal disorders seen among newborns. In addition, the features of this condition vary and can overlap significantly with those of other conditions. Do you have updated information on this disease?
We want to hear from you. Research Research. Clinical Research Resources ClinicalTrials. Click on the link to go to ClinicalTrials. Please note: Studies listed on the ClinicalTrials. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more.
To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query". Organizations Organizations. Organizations Supporting this Disease. InterConnect E-mail: info interconnect.
Living with XXY W. Point Loma Blvd. Do you know of an organization? Living With Living With. Their Web site offers general and condition-specific education resources to help teachers and parents better understand the needs of students who have genetic conditions. Learn More Learn More. Click on the link to view information on this topic. MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
MedlinePlus Genetics contains information on Klinefelter syndrome. This website is maintained by the National Library of Medicine. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them. In-Depth Information Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free. The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health.
Visit the website to explore the biology of this condition. Orphanet is a European reference portal for information on rare diseases and orphan drugs. 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.
There's no way to change the XXY condition if someone is born with it, but there are treatments that can help. Beginning treatment early makes it work better.
It's not easy to feel like you're developing differently from other guys. Guys with Klinefelter syndrome are more likely to have low self-confidence or shyness, which can make things harder. Counselors and therapists can give guys practical skills to help them feel more confident in social settings.
If you're struggling to keep up or do well in school, talk to your school counselor or teachers. Tell them about your condition. You might be able to get extra assistance and support to make schoolwork and classes go more smoothly. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. These are named either X or Y. The X chromosome is not a "female" chromosome and is present in everyone. The presence of a Y chromosome denotes male sex.
Boys and men with Klinefelter syndrome are still genetically male, and often will not realise they have this extra chromosome, but occasionally it can cause problems that may require treatment. Klinefelter syndrome does not usually cause any obvious symptoms early in childhood, and even the later symptoms may be difficult to spot. Most boys and men with Klinefelter syndrome will not be significantly affected and can live normal, healthy lives.
But men with Klinefelter syndrome are at a slightly increased risk of developing other health problems, including:. These problems can usually be treated if they do occur and testosterone replacement therapy may help reduce the risk of some of them. This chromosome carries extra copies of genes, which interfere with the development of the testicles and mean they produce less testosterone male sex hormone than usual.
The extra genetic information may either be carried in every cell in the body or it may only affect some cells known as mosaic Klinefelter syndrome. Klinefelter syndrome is not directly inherited — the additional X chromosome occurs as a result of either the mother's egg or the father's sperm having the extra X chromosome an equal chance of this happening in either , so after conception the chromosome pattern is XXY rather than XY.
This change in the egg or sperm seems to happen randomly. If you have a son with the condition, the chances of this happening again are very small.
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