According to studies, Klinefelter syndrome (KS) can shorten life expectancy up to 2 years depending on whether complications associated with the condition develop. Early detection and treatment, including special educational interventions, may improve the outlook of this disease.
What is Klinefelter syndrome?
Klinefelter syndrome is a genetic condition that occurs when a boy is born with an extra copy of the X chromosome in his cells. Problems associated with KS include:
- Smaller than normal testicles
- Lower production of testosterone
- Reduced muscle mass
- Reduced body and facial hair
- Enlarged breast tissue
- Delayed speech and language development
Although most men with KS produce little or no sperm, treatments such as assisted reproductive procedures may help some to father a child.
What causes Klinefelter syndrome?
Both males and females are born with 23 pairs of chromosomes inside each of their cells, including two sex chromosomes: X and Y.
- Females are born with two X chromosomes (XX) that are responsible for female sexual traits (breasts and a uterus).
- Males are born with one X and one Y chromosome (XY) that are responsible for male sexual traits (penis and testicles).
Boys with KS have an extra X chromosome (XXY), which can come from either the mother or father. Although maternal advanced age slightly increases the risk of KS, most cases of KS stem from random genetic mutations.
What are the symptoms of Klinefelter syndrome?
Signs and symptoms of Klinefelter syndrome vary significantly by age. Sometimes symptoms don’t appear until adulthood, and in some cases the syndrome may never be diagnosed.
Babies
Signs and symptoms may include:
- Delay in speaking
- Slow motor development such as delay in sitting up, crawling, and walking
- Delay in speech
- Undescended testicles during birth
Boys and teenagers
Signs and symptoms may include:
- Increased height
- Absent or incomplete puberty
- Longer legs and hands with a short torso
- Broad hips
- Less muscle and facial hair compared with those of other teens
- Small penis
- Small testicles
- Gynecomastia (enlarged breast)
- Weak bones
- Lack of energy
- Difficulty socializing
- Reticent and shy nature
- Difficulty reading, writing and spelling, or doing math
Men
Signs and symptoms may include:
- Increased height
- Low sex drive
- Increased abdominal fat
- Small penis
- Small testicles
- Low sperm count or no sperm
- Weak bones
- Decreased facial or body hair
- Gynecomastia
- Fewer muscles
How is Klinefelter syndrome treated?
Treatment options for Klinefelter syndrome depend on the symptoms and may include:
- Testosterone replacement therapy
- Breast tissue removal
- Speech and physical therapy
- Fertility treatment
- Educational evaluation and support
- Psychological counseling
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Medically Reviewed on 9/13/2021
References
https://academic.oup.com/jcem/article/98/1/20/2823039
https://www.mayoclinic.org/diseases-conditions/klinefelter-syndrome/diagnosis-treatment/drc-20353954
https://www.healthychildren.org/English/ages-stages/gradeschool/puberty/Pages/Klinefelter-Syndrome.aspx
https://www.mayoclinic.org/diseases-conditions/klinefelter-syndrome/diagnosis-treatment/drc-20353954
https://www.healthychildren.org/English/ages-stages/gradeschool/puberty/Pages/Klinefelter-Syndrome.aspx
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