Terada H, Yamaguchi Y, Ushiyama T, Suzuki K, Tajima A, Kawabe K
Department of Urology, Hamamatsu University School of Medicine.
Nihon Hinyokika Gakkai Zasshi. 1995 Jul;86(7):1294-7. doi: 10.5980/jpnjurol1989.86.1294.
A 28-year-old man visited our hospital with a complaint of male infertility. His development was normal with body size of 169.5 cm in height and muscular type. His beard and axillary and pubic hairs were male type. The penis and scrotum were also normal, but testes were small (8 ml, bilateral). Semen analysis revealed azoospermia. Serum luteinizing hormone (LH) and testosterone levels are within normal range but follicle stimulating hormone (FSH) was moderately elevated. Testicular biopsy specimen showed severely hyalinized seminiferous tubuli, incarceration of basement membrane and hyperplasia of Leydig cells. Johnsen's score count was two. Chromosomal analysis revealed a mosaic type of 45, X/46, X + mar. We tried to confirm the existence of sex-determining region of the Y chromosome (SRY) by the DNA analysis. It was shown that SRY on genomic DNA fragment. This marker chromosome may be translocated to a fragment of the short arm of Y chromosome.
一名28岁男性因男性不育前来我院就诊。他发育正常，身高169.5厘米，体型为肌肉型。他的胡须、腋毛和阴毛均为男性类型。阴茎和阴囊也正常，但睾丸较小（双侧均为8毫升）。精液分析显示无精子症。血清促黄体生成素（LH）和睾酮水平在正常范围内，但促卵泡生成素（FSH）中度升高。睾丸活检标本显示生精小管严重玻璃样变、基底膜嵌顿和睾丸间质细胞增生。约翰森评分是2分。染色体分析显示为45,X/46,X + mar嵌合型。我们试图通过DNA分析来确认Y染色体性别决定区（SRY）的存在。结果表明基因组DNA片段上存在SRY。这条标记染色体可能易位到了Y染色体短臂的一个片段上。
