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Klinefelter syndrome is a relatively common genetic disorder that occurs in around 1 in every 500-1,000 male newborns. [1] X Research source It is caused when a male has an extra X-chromosome, causing infertility. Even though this condition can be tested for during pregnancy, most people do not choose to do this. Most people with Klinefelter syndrome are diagnosed during or after puberty, when symptoms are most prevalent. This article will show you how to look for the symptoms of this condition.
Steps
Using developmental milestones is not a definitive way to determine whether or not someone has this condition. You will need to check their physical characteristics as well.
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1Check to see if you or your child experienced milestones at a normal rate. People with Klinefelter syndrome often have trouble achieving certain developmental milestones, such as sitting up or walking when they are children. [2] X Trustworthy Source Mayo Clinic Educational website from one of the world's leading hospitals Go to source
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2Consider whether you or your child had difficulty reading, writing, or speaking. Some people with this syndrome have speech delays or other learning difficulties.
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1Check their height. A person that is taller than most of their family members and displays other symptoms of this syndrome should be tested by a doctor. Many people with this condition are quite tall. They may also have long limbs. [3] X Research source Their body proportions may also be slightly off. For instance, they may have a short torso and long limbs.
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2Check their muscle tone. People affected with this condition often have low muscle tone. Their arms and legs may look undefined or thinner than usual.
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3Determine if they have weaker bones. People with Klinefelter syndrome frequently have weaker bones or osteoporosis. If you remember frequently fracturing bones or your child does, they may have Klinefelter syndrome. [4] X Trustworthy Source Cleveland Clinic Educational website from one of the world's leading hospitals Go to source
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4Determine if their physical characteristics during puberty are atypical. Because of the extra chromosome in their DNA, they will have incomplete puberty. People with this syndrome may have rounder hips and a fuller chest. Many people also have largened breast tissue (gynecomastia). They may have a lack of facial and body hair compared to other males. [5] X Research source
- Many people with this condition have smaller or undescended testicles, as well as a small penis.
- This makes many people with Klinefelter syndrome infertile, but they may not find out until adulthood. [6] X Research source
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1Book an appointment for your primary doctor. Your primary doctor can tell if you have the symptoms of Klinefelter syndrome by doing a physical exam. They will also run chromosomal and hormonal tests to verify if you have this genetic condition. [7] X Research source [8] X Research source A karyotype test may be needed to check for the condition as well.
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2Undergo hormone replacement therapy. HRT (hormone replacement therapy) may be needed to develop secondary sex characteristics for men. Injections of testosterone or administering testosterone through a skin patch may be necessary. There is also a gel form of testosterone that can be applied to a person's upper arms. [9] X Research source [10] X Research source [11] X Research source
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3Attend speech and language therapy if needed. Some people may need speech therapy to improve their speaking abilities. A certified speech pathologist can help children with this condition to make certain sounds, improve their voice, address stuttering, and improve their vocabulary. [12] X Research source [13] X Research source
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4Get physical therapy if needed. Some children may need physical therapy to strengthen their muscles and improve their motor skills. A specialized physiotherapist can help children develop the motor skills for running, jumping, and moving their bodies in other ways. [14] X Research source
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5Request educational assistance if necessary. Some kids with Klinefelter syndrome will need a little extra support in their daily lives. You may consider getting your child a specialized disability program for school, such as an IEP (Individualized Education Program), or a similar one in your country. These professionals will assist your child and tailor their education to what they need in order to succeed. [15] X Trustworthy Source Understood Nonprofit organization dedicated to resources and support to people with thinking differences, such as ADHD or dyslexia Go to source
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References
- ↑ https://www.nichd.nih.gov/health/topics/klinefelter/conditioninfo/risk#:~:text=Researchers%20estimate%20that%201%20in,disorders%20found%20in%20all%20newborns .
- ↑ https://www.mayoclinic.org/diseases-conditions/klinefelter-syndrome/diagnosis-treatment/drc-20353954
- ↑ https://kidshealth.org/en/parents/klinefelter-syndrome.html
- ↑ https://my.clevelandclinic.org/health/diseases/21116-klinefelter-syndrome
- ↑ https://www.healthline.com/health/klinefelter-syndrome#symptoms
- ↑ https://www.mountsinai.org/health-library/diseases-conditions/klinefelter-syndrome
- ↑ https://www.mountsinai.org/health-library/diseases-conditions/klinefelter-syndrome
- ↑ https://www.webmd.com/men/klinefelter-syndrome
- ↑ https://pmc.ncbi.nlm.nih.gov/articles/PMC9814111/
- ↑ https://stanfordhealthcare.org/medical-conditions/mens-health/klinefelter-syndrome/treatment.html
- ↑ https://www.ksa-uk.net/for-professionals/treatment/
- ↑ https://www.negenetics.org/sites/default/files/media/2021-05/printable-klinefelter.pdf
- ↑ https://www.asha.org/students/speech-language-pathologists/
- ↑ https://www.webmd.com/men/klinefelter-syndrome
- ↑ https://www.understood.org/en/articles/what-is-an-iep
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