Schreiber D, Palutke W, Cohen M P
Department of Medicine, Wayne State University School of Medicine, Detroit, Michigan 48201, USA.
Am J Clin Pathol. 1976 May;65(5):675-9. doi: 10.1093/ajcp/65.5.675.
An 18-year-old boy with clinical features of Klinefelter's syndrome in whose case the buccal smear was chromatin-negative and chromosomal analysis of peripheral blood revealed 46 XY karyotype is described. Diagnosis was confirmed by demonstration of an XXY cell line in cultured skin fibroblasts. Low circulating thyroxine levels were found despite absence of clinical hypothyroidism, and TSH was barely detectable. The studies are consistent with an isolated deficiency of thyrotropin-releasing hormone in a patient with XY/XXY mosaicism.
本文描述了一名18岁患有克兰费尔特综合征临床特征的男孩，其口腔黏膜涂片染色质呈阴性，外周血染色体分析显示核型为46 XY。通过培养的皮肤成纤维细胞中XXY细胞系的检测证实了诊断。尽管没有临床甲状腺功能减退，但发现循环甲状腺素水平较低，促甲状腺激素几乎检测不到。这些研究结果与一名XY/XXY嵌合体患者促甲状腺激素释放激素单独缺乏相符。
