Diagnosing Klinefelter Syndrome
The next most likely opportunity for diagnosis is when a child begins school. A physician may suspect that a boy has Klinefelter syndrome if he is delayed in learning to talk and has difficulty with reading and writing. Children with Klinefelter syndrome may also be tall and thin and somewhat passive and shy. Again, however, there are no guarantees. Some of the boys who fit this description will have the XXY chromosome count, but many others will not.
A few males are diagnosed with Klinefelter syndrome at adolescence, when excessive breast development forces them to seek medical attention. Like some chromosomally normal males, many males with Klinefelter syndrome undergo a slight breast enlargement at puberty.
Klinefelter syndrome can also be diagnosed during adulthood as a result of testing for infertility. At this time, an examining physician may note the undersized testes characteristic of males with Klinefelter syndrome. In addition to infertility tests, the physician may order tests to detect increased levels of hormones known as gonadotropins, common in males with Klinefelter syndrome.