지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
초록· 키워드
오류제보하기
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.
목차
등록된 정보가 없습니다.
참고문헌 (43)
참고문헌 신청
Bojesen A / 2003 / Prenatal and postnatal pre-valence of Klinefelter syndrome : a national registry study / J Clin Endocrinol Metab 88:622~626
Lanfranco F / 2004 / Kline-felter’s syndrome / Lancet 364:273~283
Rajender A / 2018 / Evaluation and management of Kline-felter syndrome / AUA Update Ser 37
Bonomi M / 2017 / Klinefelter syndrome(KS) : genetics, clinical phenotype and hypogonadism / J Endo-crinol Invest 40:123~134
Wikstrom AM / 2006 / Genetic features of the X chromosome affect pubertal develop-ment and testicular degeneration in adolescent boys with Klinefelter syndrome / Clin Endocrinol(Oxf) 65:92~97
Lanfranco F / 2004 / Kline-felter’s syndrome / Lancet 364:273~283
Rajender A / 2018 / Evaluation and management of Kline-felter syndrome / AUA Update Ser 37
Bonomi M / 2017 / Klinefelter syndrome(KS) : genetics, clinical phenotype and hypogonadism / J Endo-crinol Invest 40:123~134
Wikstrom AM / 2006 / Genetic features of the X chromosome affect pubertal develop-ment and testicular degeneration in adolescent boys with Klinefelter syndrome / Clin Endocrinol(Oxf) 65:92~97
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