Gotoh Mitsuhiro, Nakano Junko, Midorikawa Sanae, Niimura Susumu, Ono Yoshiaki, Mizuno Kenji
Department of Internal Medicine, Yanagawa Municipal Hospital, Fukushima, Japan.
Endocr J. 2002 Aug;49(4):523-9. doi: 10.1507/endocrj.49.523.
A 46-year-old Japanese male was admitted for the evaluation of severe hypertension. He was obese and had a eunuchoidal body habitus. Chromosomal analysis revealed a 46, XY/47, XXY karyotype. Serum LH, FSH and testosterone levels were low, indicating hypogonadotropic hypogonadism. Endocrinological dynamic tests disclosed presence of hypothalamic panhypopituitarism, partial diabetes insipidus, type 2 diabetes mellitus and low renin essential hypertension. Brain computed tomography and magnetic resonance imaging revealed intra- and extrasellar masses. Histological examination of the tissue obtained at transsphenoidal surgery showed a Rathke's cleft cyst (RCC). To the best of our knowledge, this is the first case report of mosaic Klinefelter's syndrome accompanied by symptomatic RCC, type 2 diabetes mellitus and low renin essential hypertension.
一名46岁的日本男性因严重高血压入院评估。他体型肥胖，呈类无睾体型。染色体分析显示其核型为46, XY/47, XXY。血清促黄体生成素（LH）、促卵泡生成素（FSH）和睾酮水平较低，提示低促性腺激素性性腺功能减退。内分泌动态试验显示存在下丘脑全垂体功能减退、部分性尿崩症、2型糖尿病和低肾素性原发性高血压。脑部计算机断层扫描和磁共振成像显示鞍内和鞍外肿块。经蝶窦手术获取的组织的组织学检查显示为拉克氏囊肿（RCC）。据我们所知，这是首例伴有症状性RCC、2型糖尿病和低肾素性原发性高血压的嵌合型克兰费尔特综合征病例报告。
