Sato Fumio, Hirota Keiichi, Tozaki Teruaki, Ito Katsumi, Dhakal Pramod, Taya Kazuyoshi, Endo Yoshiro, Murase Harutaka, Nambo Yasuo
Hidaka Training and Research Center, Japan Racing Association, 535-13 Nishicha, Urakawa, Hokkaido, Japan.
J Vet Med Sci. 2012 Oct;74(10):1327-31. doi: 10.1292/jvms.11-0473. Epub 2012 May 25.
A Thoroughbred colt with ambiguous external genitalia was presented for clinical and histological examinations. The colt had a short penis that faced backward between his hind limbs. The measurements of luteinizing hormone, follicle stimulating hormone, testosterone and ir-inhibin showed a tendency to increase gradually from April. Both the sex-determining region of the Y chromosome and amelogenin gene fragments were detected by the PCR method. A cytogenetic analysis revealed the 63,XO/64,XY mosaic karyotype (ratio 83:17). In autopsy, immature symmetrical subcutaneous testes were found in the inguinal regions. The testes and other accessory sex organs were histologically normal. These results add to our knowledge of chromosomal abnormality and information concerning disorders of sex development in the horse.
一匹具有两性畸形外生殖器的纯种马驹被送来进行临床和组织学检查。这匹马驹阴茎短小，位于两后肢之间并向后。促黄体生成素、促卵泡激素、睾酮和免疫抑制素的测量结果显示，从4月起有逐渐升高的趋势。通过聚合酶链反应（PCR）方法检测到Y染色体性别决定区和釉原蛋白基因片段。细胞遗传学分析显示为63,XO/64,XY嵌合核型（比例为83:17）。尸检时，在腹股沟区域发现了未成熟的对称皮下睾丸。睾丸和其他附属生殖器官在组织学上正常。这些结果增加了我们对马染色体异常以及性发育障碍相关信息的了解。
