Most men with the condition are infertile and can't father a child the usual way. Options for becoming natural parents are limited, but fertility researchers are working on new treatments. 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.
The condition that causes XXY syndrome is present at birth and can't be changed. But educational treatments and various types of therapy physical therapy , speech therapy , behavioral and mental health counseling, and occupational therapy can help someone keep pace in school and overcome problems with shyness and social development. Kids and teens with XXY syndrome sometimes have trouble fitting in with kids their own age. With early help, in adulthood most will have normal social relationships with friends, family members, coworkers, and others.
Note: All information is for educational purposes only. For specific medical advice, diagnoses, and treatment, consult your doctor. In these cases, known as "variants of Klinefelter syndrome", the signs and symptoms can be more severe and may include: [1] [2] [4] Intellectual disability Distinctive facial features Skeletal abnormalities Poor coordination Severe speech difficulties Behavioral problems Heart defects Teeth problems.
Cause Cause. Klinefelter syndrome usually occurs as a random event during the formation of reproductive cells eggs and sperm. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain one or more extra copies of the X chromosome as a result of nondisjunction.
If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have one or more extra X chromosomes in each of the body's cells. Some people with Klinefelter syndrome have the extra X chromosome in only some of their cells; these people are said to have mosaic Klinefelter syndrome.
Women who have pregnancies after age 35 have a slightly increased chance of having offspring with this syndrome. Inheritance Inheritance. Klinefelter syndrome is not inherited , but usually occurs as a random event during the formation of reproductive cells eggs and sperm. An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. If one of these reproductive cells contributes to the genetic makeup of a child, the child will have one or several extra X chromosomes in each of the body's cells.
Diagnosis Diagnosis. A diagnosis of Klinefelter syndrome is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis.
This generally includes a chromosomal analysis called a karyotype. Treatment Treatment. Because symptoms of Klinefelter syndrome KS can sometimes be very mild, many people are never diagnosed or treated. When a diagnosis is made, treatment is based on the signs and symptoms present in each person, especially the problems related to hypogonadism , gynecomastia , and psychosocial problems.
Treatment may include: [1] [3] [4] Testosterone replacement: About half of people with SK have low testosterone levels, which may be raised by taking supplemental testosterone. Having a more normal testosterone level can help affected people develop bigger muscles, a deeper voice, and facial and body hair, and may also increase sexual desire, enlarge the testes , improve mood, self-image, and behavior; it may also protect against osteoporosis and decrease the risks of autoimmune disease and breast cancer.
Breast removal or reduction surgery. Educational interventions: As children, many people with Klinefelter syndrome qualify for special services to help them in school. Teachers can also help by using certain methods in the classroom, such as breaking bigger tasks into small steps. Several forms of therapy such as physical, speech, occupational, behavioral, mental health, and family therapy can often help reduce or eliminate some of the symptoms of Klinefelter syndrome such as poor muscle tone; speech and language problems; or low self-confidence.
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.
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