Rathke's Cleft Cyst를 동반한 Klinefelter's Syndrome 1예 (A Case of Klinefelter's Syndrome with Rathke's Cleft Cyst)

서지정보

· 발행기관 : 대한내분비학회
· 수록지 정보 : Endocrinology and Metabolism / 17권 / 4호 / 564 ~ 571페이지
· 저자명 : 이현주, 박효경, 김대중, 이유미, 안철우, 정상수, 남재현, 차봉수, 송영득, 임승길, 김경래, 박용구, 이현철, 허갑범

초록

Klinefelter 증후군은 그 발생빈도가 높고 47 XXY 핵형의 염색체 이상을 나타내는 질환으로 성선기능부전증의 가장 흔한 원인 중의 하나이다. 이 증후군이 중추신경계 종양을 동반하는 경우는 매우 드물어서 여태까지 시상하부나 터키안상부에 발생한 배아종은 간혹 관찰되었으나 Rathke's cleft cyst가 동반된 경우는 보고된 바가 없어, 본 저자들은 터키안상부 우연종으로 내원한 32세 남자에서 Rathke's cleft cyst로 진단하고 수술하였으나 수술후에도 호르몬 이상 소견이 호전되지 않고 지속되어 염색체검사 시행결과 Klinefelter 증후군임을 발견하였기에 이를 보고하는 바이다.

영어초록

Klinefelter's syndrome is one of the most common forms of primary hypogonadism presenting with gynecomastia, azospermia and increased follicle-stimulating hormone. It is well known that this syndrome has an increased incidence of neoplasia, especially breast cancer and extragonadal germ cell tumors. However, it is rarely associated with an intracranial tumor of maldevelopmental origin, especially in the suprasellar area.We report, for the first time, a case of Klinefelter's syndrome, with a Rathke's cleft cyst is the patient was a 32-year-old male who was known to have an incidentaloma form brain computed tomography, which was clinically diagnosed as a suprasellar tumor. After operating, the suprasellar mass was confirmed as a Rathke's cleft cyst, and his hormonal abnormality, an elevated level of follicle-stimulating hormone, was not normalized. Therefore, we performed chromosomal analysis, and diagnosed Klinefelter's syndrome with the XXY karyotype (J Kor Soc Endocrinol 17:564～571, 2002).

참고자료

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