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6988661 
Journal Article 
A case of ambiguous external genitalia in a Thoroughbred male horse with the 63,XO/64,XY mosaic karyotype 
Sato, F; Hirota, K; Tozaki, T; Ito, K; Dhakal, P; Taya, K; Endo, Y; Murase, H; Nambo, Y; , 
2012 
1 
Journal of Veterinary Medical Science
ISSN: 0916-7250
EISSN: 1347-7439 
JAPAN SOC VET SCI 
TOKYO 
1327-1331 
English 
22672839 
WOS:000311593600014 
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.