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Symptoms
By Mayo Clinic staffMany babies and boys with Klinefelter syndrome have few noticeable symptoms, and the condition may go undiagnosed until adulthood. For others, the condition has a noticeable effect on growth or appearance. Klinefelter syndrome may cause speech and learning problems in some boys.
Signs and symptoms of Klinefelter syndrome vary by age:
Babies
- Weak muscles
- Slow motor development — taking longer than average to sit up, crawl and walk
- Delay in speaking
- Quiet, docile personality
- Problems at birth, such as testicles that haven't descended into the scrotum
Boys and teenagers
- Taller than average stature
- Longer legs, shorter torso and broader hips compared with other boys
- Absent, delayed or incomplete puberty
- After puberty, less muscular bodies and less facial and body hair compared with other teens
- Small, firm testicles
- Small penis
- Enlarged breast tissue (gynecomastia)
- Weak bones
- Low energy levels
- Shyness
- Difficulty expressing feelings or socializing
- Problems with reading, writing, spelling or math
- Attention problems
Men
- Infertility
- Small testicles and penis
- Taller than average stature
- Weak bones
- Decreased facial and body hair
- Enlarged breast tissue
- Decreased sex drive or sexual problems
When to see a doctor
See a doctor to rule out Klinefelter syndrome or another health condition if you or your son has:
- Slow development during infancy or boyhood. If your son seems to be developing more slowly than other boys are, see your son's doctor. Some variation in physical and mental development is normal. But it's best to check with a doctor if you have any concerns. Delays in growth and development can be the first sign of a number of conditions that need treatment — including Klinefelter syndrome. If your son does have Klinefelter syndrome, early treatment, including speech therapy, can help prevent or minimize problems.
- Male infertility. If your partner hasn't gotten pregnant after a year of regular, unprotected sex, see a doctor. Infertility is usually caused by something other than Klinefelter syndrome, but many men aren't diagnosed with the condition until they realize they're unable to father a child.
References
- Bock R. Understanding Klinefelter syndrome: A guide for XXY males and their families. National Institute of Child Health & Human Development. http://www.nichd.nih.gov/publications/pubs/klinefelter.cfm. Accessed Aug. 30, 2010.
- Zeger M, et al. Effect of ascertainment and genetic features on the phenotype of Klinefelter syndrome. Journal of Pediatrics. 2008;152:716.
- Klinefelter syndrome. Genetics Home Reference. http://www.ghr.nlm.nih.gov/condition/klinefelter-syndrome. Accessed Aug. 30, 2010.
- Klinefelter syndrome. National Institute of Child Health & Human Development. http://www.nichd.nih.gov/health/topics/klinefelter_syndrome.cfm. Accessed Aug. 30, 2010.
- Ramasamy R, et al. Successful fertility treatment for Klinefelter's syndrome. Journal of Urology. 2009;182:1108.
- Radicioni AF, et al. Strategies and advantages of early diagnosis in Klinefelter's syndrome. Molecular Human Reproduction. 2010;16:434.
- Bruining H, et al. Psychiatric characteristics in a self-selected sample of boys with Klinefelter syndrome. Pediatrics. 2009;123:e865.
- Sex chromosome anomalies. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merck.com/mmpe/print/sec19/ch294/ch294g.html. Accessed Sept. 23, 2010.
- Wattendorf DJ, et al. Klinefelter syndrome. American Family Physician. 2005;72:2259.
- Klinefelter syndrome. The Hormone Foundation. http://www.hormone.org/upload/Klinefelter-Bilingual-WEB.pdf. Accessed Aug. 30, 2010.
- Learning about Klinefelter syndrome. National Human Genome Research Institute. http://www.genome.gov/pfv.cfm?pageID=19519068. Accessed Aug. 30, 2010.
- Snyder PJ. Causes of primary hypogonadism in males. http://www.uptodate.com/home/index.html. Accessed Aug. 30, 2010.
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