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클라인펠터증후군 환자의 임상증상, 진단 및 치료

Clinical manifestation, diagnosis, and treatment of Klinefelter syndrome

대한의사협회지 2020년 63권 9호 p.548 ~ 558
조현희,
소속 상세정보
조현희 ( Cho Hyun-Hee ) - Catholic University College of Medicine Department of Obstetrics and Gynecology

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.

키워드

클라인펠터증후군; 무정자증; 테스토스테론; 삶의 질; X-염색체
Klinefelter syndrome; Azoospermia; Testoserone; Quality of life; X chromosome

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