I realized many people know what Klinefelter syndrome is, and it is not secret as it used to be. However, I was surprised when I found out that only about 40% of babies with Klinefelter syndrome survive the fetal period. That is why I want to hear how serious this disorder is. Can you tell me how these people live their life with Klinefelter syndrome?
Most males born with Klinefelter syndrome go through life without being diagnosed. Diagnosis, when made, usually occurs in adulthood. The most common indications for karyotyping are hypogonadism and infertility. Infertility and gynecomastia are the two most common complaints that are leading to diagnosis of Klinefelter syndrome. Other complaints include fatigue, weakness, erectile dysfunction, osteoporosis, and language impairment. Patients have more problems during their life such as academic difficulty, subnormal libido, poor self-esteem, and behavior problems. Infants and children diagnosed with Klinefelter syndrome have normal heights, weights, and head circumferences. Height velocity is increased by age 5 years, and adult height usually is taller than average, as well as long arms and legs. Most of 47,XXY males have normal intelligence, while subnormal intelligence or mental retardation may be associated with the presence of a higher number of X chromosomes. About 70% of Klinefelter patients have minor developmental and learning disabilities. These may include academic difficulties, delayed speech and language acquisition, diminished short-term memory, and reading difficulties.