Clinical manifestation, diagnosis, and treatment of Klinefelter syndrome

ABSTRACT

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.