Pais V M, Vasudevan P
J Urol. 1977 Oct;118(4):690-1. doi: 10.1016/s0022-5347(17)58160-4.
A case of an infertile male subject with 46XX female karyotype is reported. A testicular biopsy revealed hyalinized tubules with Sertoli cells and marked interstitial cell hyperplasia. Chromosomal studies showed the presence of 46 chromosomes with an XX sex chromosome constitution, confirmed with trypsin banding. XX male subjects present an interesting diagnostic problem and need to be differentiated from XXY male subjects with Klinefelter's syndrome. The clinical features of this rare syndrome are discussed and the literature is reviewed.
报道了一例核型为46XX的不育男性病例。睾丸活检显示曲细精管透明变性，伴有支持细胞，间质细胞明显增生。染色体研究显示有46条染色体，性染色体组成为XX，经胰蛋白酶显带证实。XX男性患者存在一个有趣的诊断问题，需要与患有克兰费尔特综合征的XXY男性患者相鉴别。本文讨论了这种罕见综合征的临床特征并回顾了相关文献。
