거인증의 감별진단을 통해 확인된 클라인펠터 증후군 1예
A Case of Klinefelter Syndrome Differentially Diagnosed as a Cause of Gigantism
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초록
클라인펠터 증후군은 잉여의 X염색체 존재에 의한 선천성 질환으로 남성의 일차성 성선기능저하증을 유발하는 가장 흔한 원인의 하나이다. 이는 고환 위축, 불임 등의 성선기능저하증과 관련된 증상 이외에도 여러 다양한 합병증을 동반하는 것으로 잘 알려져 있다. 저자들은 군 복무 중인 환자에서 거인증에 대한 감별진단을 통해 확진된 클라인펠터 증후군 환자를 경험하여 이를 보고하고자 한다. 20세 남자 환자가 지속적으로 키가 커지는 증상으로 내원하였다. 환자의 신장은 193.4 cm로 거인증과 관련된 다른 원인들에 대한 감별진단을 시행하였으나 모두 정상이었다. 하지만 환자의 신체 검사상 이차 성징의 증거가 뚜렷하지 않았고 호르몬 검사상 일차성 성선기능저하증이 의심되었다. 이에 염색체 핵형 검사를 시행하여 47, XXY의 클라인펠터 증후군으로 확진되었다.
Abstract
Klinefelter syndrome is a congenital disease that is associated with the existence of an extra X chromosome, and is one of the most common causes of male primary hypogonadism. In addition to hypogonadism-associated manifestations such as testicular atrophy and infertility, it is also well known that this syndrome may be associated with other systemic comorbidities. In this report, we describe a typical case of Klinefelter syndrome that was differentially diagnosed as a cause of gigantism. A 20-year-old male was admitted to evaluate the cause of tall stature. His height was 193.4 cm, and all screening tests for gigantism were negative. Physical examination revealed no clear evidence of secondary sexual characteristics, and the results of a hormonal assay were highly suspicious for primary hypogonadism. Based on these findings, we performed a chromosomal analysis and confirmed Klinefelter syndrome with a 47, XXY karyotype. (Korean J Med 2011;80:343-347)
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