Most XXY Boys Undiagnosed

Most XXY Boys Undiagnosed

Klinefelter (XXY) Syndrome in Children

Although this genetic condition is common, it’s not always easily diagnosed. Learn what to do if you think your son might be affected.

Jennifer was shocked when her son Cole was diagnosed with Klinefelter syndrome at age eight. He had a speech delay as a toddler, as well as trouble with motor skills like jumping. But other than that he didn’t seem that different from his peers … until he started school. That’s when his learning troubles became obvious. A test confirmed a doctor’s hunch that Cole had Klinefelter syndrome.

Klinefelter syndrome, or XXY syndrome, is a common genetic condition found in about one in 500 males. Normally, males have an X and a Y chromosome. In boys with this condition, there is an extra X chromosome.

Unlike many other chromosomal problems, babies with Klinefelter syndrome don’t always look different or even have a birth defect linked to the condition. If a child does have Klinefelter syndrome, parents such as Jennifer may not even notice the signs until their son is a teenager.

Early signs and symptoms

The signs of Klinefelter syndrome are often not obvious at an early age. They may also be mistaken for other conditions. The symptoms vary from person to person, but may include:

  • Talking later than other children
  • Trouble with coordination and agility
  • Poor muscle tone, which affects walking, jumping and hopping
  • Social immaturity
  • Shyness, especially when speech is atypical
  • Depression and anxiety
  • Unusually tall stature
  • Swelling of breast tissue and absence of body hair during puberty
  • Small testicles and penis

Delayed puberty is sometimes the tip-off for a diagnosis. To confirm the disorder, a blood test called a karyotype is done. This will detect whether the extra X chromosome is present.

How parents can help

Many boys with this disorder have language-based learning disabilities. These include problems with speech, writing and processing what they hear. Addressing these problems early can help reduce learning disabilities to learning differences. Giving a child the right support in school and at home will also help make him more confident, successful and well-adjusted.

Here are some ways you can advocate for your son:

  • Seek special services if needed. Speech and occupational therapy, for instance, can improve language and motor skills. The school district may offer these services if an assessment shows a developmental delay. They may also make special accommodations for a documented learning disability.
  • Educate and inform others about the condition. Make sure the people who work closely with your son know about Klinefelter syndrome. Explain how it affects his development and day-to-day functioning.
  • Stay in touch with your son’s teacher. He or she can keep you in the loop about your child’s progress. If you have concerns, set up a brief conference or phone call to address them right away.
  • Encourage your son to take part in sports. Non-competitive activities can help him improve his motor skills and build his confidence. He may enjoy karate, swimming, ice skating or gymnastics classes.
  • Be reassuring and supportive. Talk to your son on an age-appropriate level about what his condition means. Also prepare him for what to expect as he gets older. Boys with Klinefelter syndrome often undergo testosterone treatment to help their bodies develop physically. This can in turn boost his self-esteem by allowing him to fit in better with peers.
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