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:
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:
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