Yamamoto M, Yokoi K, Katsuno S, Hibi H, Miyake K
Department of Urology, Nagoya University School of Medicine, Japan.
Nagoya J Med Sci. 1995 Dec;58(3-4):111-5.
We examined a 32-year-old man with a 4-year history of infertility. The man's sex life, male hair pattern, and penis were normal, and he had no history of erection problems. Left and right testicular volumes were 2 ml and 3 ml, respectively. Semen analysis showed no sperm. The endocrine panel revealed increased serum luteinizing hormone and follicle-stimulating hormone levels, and a normal serum testosterone level. A testicular biopsy demonstrated that both Leydig cell and Sertoli cell hyperplasia were present, and that no germ cells were found in the tubules. A chromosome analysis done on the peripheral blood lymphocytes revealed a karyotype of 46, XX. We identified the sex-determining region, Y, by polymerase chain reaction using Y-specific probes in this patient. The diagnosis was XX male.
我们检查了一名32岁男性，其有4年不孕史。该男性的性生活、男性发型及阴茎均正常，且无勃起功能障碍病史。左右睾丸体积分别为2毫升和3毫升。精液分析显示无精子。内分泌检查显示血清黄体生成素和卵泡刺激素水平升高，血清睾酮水平正常。睾丸活检显示存在睾丸间质细胞和支持细胞增生，且在曲细精管中未发现生殖细胞。对外周血淋巴细胞进行的染色体分析显示核型为46, XX。我们使用Y特异性探针通过聚合酶链反应在该患者中鉴定出Y染色体性别决定区。诊断为XX男性。
