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- Case Report A Case of Klinefelter's Syndrome with Rathke's Cleft Cyst.
- Hyun Joo Lee, Hyo Kyoung Park, Dae Jung Kim, Yu Mie Rhee, Chul Woo Ahn, Sang Soo Jung, Jae Hyun Nam, Bong Soo Cha, Young Duk Song, Sung Kil Lim, Kyung Rae Kim, Yong Koo Park, Hyun Chul Lee, Kap Bum Huh
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Endocrinology and Metabolism 2002;17(4):564-571
Published online: August 1, 2002
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2Department of Neurosurgery, Yonsei University College of Medicine, Seoul, Korea.
Abstract
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.
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