Klinefelter syndrome is the most common
congenital chromosomal
syndrome in
men. Clinical manifestations of
Klinefelter syndrome vary greatly depending on the level of expression of the added
X chromosome, the
sensitivity of the
androgen receptor, and the
testosterone level. On average, the likelihood of a lifetime
diagnosis of
Klinefelter syndrome patients is less than 40%, and more than 60% of
patients are unaware of their condition.
Klinefelter syndrome patients in infancy sometimes have
speech impairment; however, there are more cases without symptoms. In the early stages of
puberty, there are many normal
puberty development cases, but after mid-
puberty,
secondary sexual characteristics stop progressing. In adulthood, it is often diagnosed as a non-obstructive
azoospermia disease. After middle-age, an increase in various metabolic disorders due to
testosterone reduction appears as the main symptom.
Testosterone treatment can promote the development of
secondary sexual characteristics from
puberty. Diagnosing a
patient with
Klinefelter syndrome due to
infertility in adulthood may cause a psychological
shock; therefore, a psychotherapeutic approach is also essential.
Klinefelter syndrome is a
disease that requires lifelong management, and in most cases the
quality of life of
patients and their
families can be improved with appropriate
therapeutic intervention. Because there are many cases without symptoms, it is important to screen suspected
patients through active chromosomal testing.