Fuse H, Satomi S, Kazama T, Katayama T, Nagabuchi S, Tamura T, Nakahori Y, Nakagome Y
Department of Urology, Toyama Medical and Pharmaceutical University, Toyama, Japan.
Andrologia. 1991 May-Jun;23(3):237-9. doi: 10.1111/j.1439-0272.1991.tb02547.x.
A 30-year-old male attended the Toyama Medical and Pharmaceutical University Hospital with the chief complaint of infertility. Physical examination showed bilateral small testes and the semen contained no sperm. Hormonal studies revealed hypergonadotropic hypogonadism and cytogenetic studies showed a 46,XX karyotype. High-resolution banding showed no abnormalities in both of the X chromosomes. Histological examination of both testes showed germinal aplasia and the proliferation of Leydig cells. The diagnosis of XX-male was made from the above findings. A DNA hybridization study using 17 Y-specific probes revealed the presence of a major part of the short arm of the Y chromosome, which had presumably been translocated to the X chromosome. The translocated Y short arm had a small deletion within it.
一名30岁男性因不育为主诉就诊于富山医科药科大学医院。体格检查发现双侧睾丸小，精液中无精子。激素研究显示高促性腺激素性性腺功能减退，细胞遗传学研究显示核型为46,XX。高分辨率显带显示两条X染色体均无异常。双侧睾丸组织学检查显示生精细胞发育不全和间质细胞增生。根据上述发现做出了XX男性的诊断。使用17种Y特异性探针进行的DNA杂交研究显示Y染色体短臂的大部分存在，推测已易位至X染色体。易位的Y短臂内有一个小缺失。
