Yumura Yasushi, Murase Mariko, Katayama Kayo, Segino Miwa, Aizawa Yoshino, Kuroda Shin-No-Suke, Noguchi Kazumi
The Department of Reproductive Medicine, Yokohama City University Medical Center.
Hinyokika Kiyo. 2012 Jun;58(6):307-10.
A 40-year-old man was referred to our hospital with a 12-year history of infertility. He was a well developed male weighing 78 kg with a height of 171 cm. Physical examinations revealed male habitus with normal adult pubic and axillary hair. The penis, epididymides, spermatic cords and prostate were normal. The right testis was about 15 ml in volume and left ne was approximately 12 ml, respectively. Repeated semen analyses showed azoospermia except for only one time when 4 immotile sperm were detected. The plasma levels of lactate hydrogenase, follicle stimulating hormone prolactin and testosterone were within normal limits. Chromosome analysis of peripheral lymphocytes revealed a balanced reciprocal translocation between the short arm of chromosome 12 and the long arm of the Y chromosome (46, X, t (Y ; 12) (q12 ; p13.3)). We performed microdissection testicular sperm extraction and retrieved 11 spermatozoa (10 progressive motile). Seminiferous epithelium showed maturation arrest at the stage of spermatid. Mean Johnsen's score count was 6. The etiology and clinical features of this rare disease were briefly discussed.
一名40岁男性因12年不育史转诊至我院。他发育良好，体重78公斤，身高171厘米。体格检查显示具有成年男性的体态，阴毛和腋毛正常。阴茎、附睾、精索和前列腺均正常。右侧睾丸体积约为15毫升，左侧约为12毫升。多次精液分析显示无精子症，仅一次检测到4条不活动精子。血浆乳酸脱氢酶、促卵泡生成素、催乳素和睾酮水平均在正常范围内。外周血淋巴细胞染色体分析显示12号染色体短臂与Y染色体长臂之间存在平衡易位（46, X, t (Y; 12) (q12; p13.3)）。我们进行了显微切割睾丸取精术，获取了11条精子（10条进行性活动精子）。生精上皮显示在精子细胞阶段成熟停滞。平均约翰森评分计数为6分。本文简要讨论了这种罕见疾病的病因和临床特征。
