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.
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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. Access to this database is free of charge. PubMed is a searchable database of medical literature and lists journal articles that discuss Klinefelter syndrome.
Click on the link to view a sample search on this topic. Have a question? References References. Klinefelter syndrome. Genetics Home Reference. Kirmse B. Chen H. Medscape Reference. Learning about Klinefelter syndrome.
National Human Genome Research Institute. Klinefelter Syndrome. National Organization for Rare Disorders. Do you know of a review article? Share this content:. Close Copy Link. You May Be Interested In. How to Find a Disease Specialist. Tips for the Undiagnosed. Support for Patients and Families. Tips for Finding Financial Aid. Help with Travel Costs. By the time someone with Klinefelter syndrome is ready to become a dad, there may be new options available related to saving sperm from the testicles.
Since Klinefelter syndrome can be hard to notice, many parents don't know their son has it until he grows up or shows delays in puberty. Sometimes, parents who are worried about their son's development consult a doctor, and the diagnosis reveals Klinefelter syndrome. This can help, because the earlier a boy is diagnosed with Klinefelter syndrome, the more effective the treatments usually are. To diagnose Klinefelter syndrome, doctors usually begin by asking about any learning or behavior issues and examining the boy's testicles and body proportions.
They'll check a blood sample for the extra X chromosome. Before birth, the condition may be found through chromosomal analysis or noninvasive prenatal testing NIPT. NIPT is done on the fluid surrounding the fetus, tissue from the placenta, or the blood from the mother.
After birth, doctors can make a diagnosis with a chromosome karyotype test or microarray test from the baby. Doctors also can do hormone testing, usually by taking a blood sample to check for unusual hormone levels. There's no way to change the XXY condition if a boy is born with it, but treatments can help relieve some symptoms. As with many conditions, beginning treatment early can make it much more effective. Testosterone replacement therapy TRT works by increasing a boy's testosterone levels into the normal range.
Additional testosterone can help a boy with Klinefelter syndrome develop bigger muscles and a deeper voice, as well as promote growth of the penis and facial and body hair.
It can also help improve bone density and reduce the growth of a boy's breasts. Testosterone therapy cannot increase the size of a boy's testicles or prevent or reverse infertility, though. Educational support services can help boys and teens with Klinefelter syndrome keep pace in school.
Many benefit from extra help with schoolwork. If your son has Klinefelter syndrome, let his teachers and school nurse know and see what kind of support is available. He may be eligible for an individualized education plan IEP or education plan , which both can provide help for kids with special needs. Speech therapy and physical therapy can help boys with Klinefelter syndrome learn to speak, read, and write better, or improve muscle strength and coordination.
Other forms of therapy include behavioral, mental health, and occupational therapy. These can help improve low self-confidence, shyness, and delayed social development.
Because boys with Klinefelter syndrome can have problems with schoolwork and sports, they may feel like they don't fit in with other kids their age. They're more likely to have low self-esteem, which can make things harder socially and academically. Males have an X and a Y chromosome written as XY.
The two sex chromosomes help a person develop fertility and the sexual characteristics of their gender. In this variation, some of the cells in the male's body have an additional X chromosome, and the rest have the normal XY chromosome count. The percentage of cells containing the extra chromosome varies from case to case. Klinefelter syndrome is found in about 1 out of every , newborn males. The additional sex chromosome results from a random error during the formation of the egg or sperm.
About half of the time the error occurs in the formation of sperm, while the remainder are due to errors in egg development. Women who have pregnancies after age 35 have a slightly increased chance of having a boy with this syndrome.
Males who have Klinefelter syndrome may have the following symptoms: small, firm testes, a small penis, sparse pubic, armpit and facial hair, enlarged breasts called gynecomastia , tall stature, and abnormal body proportions long legs, short trunk.
School-age children may be diagnosed if they are referred to a doctor to evaluate learning disabilities. The diagnosis may also be considered in the adolescent male when puberty is not progressing as expected. Adult males may come to the doctor because of infertility.
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