Klinefelter Syndrome is a genetic condition present at birth that affects males. The phonetic transcription of this word using IPA symbols is /ˈklaɪnfɛltər sɪndroʊm/. It is spelled with a "K" and not a "C" because it is named after Dr. Harry Klinefelter, who first described the disorder in 1942. The "e" in "Klinefelter" is pronounced as a short "i" sound like "kl-eye-n-felt-er". The "y" in "syndrome" is pronounced like "sin-drohm". Proper spelling is important, as mispronunciation or misspelling can lead to confusion or misunderstandings about the condition.
Klinefelter syndrome is a genetic disorder that affects males, typically caused by the presence of an additional X chromosome (XXY pattern) in each cell of the individual's body, instead of the usual XY pattern. This results in a total of 47 chromosomes instead of the normal 46.
Characterized by physical, developmental, and psychological differences, individuals with Klinefelter syndrome may exhibit various signs and symptoms. Some common physical features include below-average height, longer legs and arms in proportion to the body, increased waist-to-hip ratio, broader hips, and underdeveloped testes.
Hormonal imbalances associated with Klinefelter syndrome can lead to distinctive traits such as reduced muscle tone, sparse facial and body hair, enlarged breast tissue (gynecomastia), and reduced fertility due to decreases in testosterone production. Infertility is a characteristic feature of the syndrome; affected individuals may have low sperm count or no sperm at all.
In addition to physical traits, Klinefelter syndrome may cause developmental challenges and learning difficulties, including delayed speech and language development, problems with reading and writing, poor coordination, and reduced attention span.
Diagnosis of Klinefelter syndrome is typically made through genetic testing, such as a karyotype analysis, which examines an individual's chromosomes. Although there is no cure for the syndrome, early intervention and medical treatments, such as hormone replacement therapy, may help manage some symptoms and improve quality of life. Supportive therapies and educational interventions can also be beneficial in addressing the developmental and psychological aspects associated with the syndrome.
The word "Klinefelter Syndrome" is named after the American physician Harry F. Klinefelter, who first described the condition in 1942. Klinefelter noticed a pattern of symptoms in a group of men that included small testicles, infertility, and enlarged breasts. He published a research paper on the syndrome, which later became known as "Klinefelter Syndrome" in his honor.