Sex reversal syndrome (64,XY; SRY-positive) in a mare demonstrating masculine behaviour

• Published in: Journal of animal breeding and genetics (1986) 2005-04, Vol.122 (s1), p.60-63
• Main Authors: Switonski, M., Chmurzynska, A., Szczerbal, I., Lipczynski, A., Yang, F., Nowicka-Posłuszna, A.
• Format: Article
• Language: English
• Subjects: Androgens; Animal behavior; Animals; Chromosome Aberrations - veterinary; Chromosome Disorders - genetics; Chromosome Disorders - veterinary; Chromosomes; Cytogenetic Analysis - veterinary; Equus caballus; Female; Gender; Genes; Genes, sry - genetics; Genitalia, Female - abnormalities; Horse Diseases - blood; Horse Diseases - genetics; Horses; Sequence Analysis, DNA - veterinary; Sexual Behavior, Animal - physiology; Testosterone - blood; X Chromosome - genetics
• ISSN: 0931-2668; 1439-0388
• DOI: 10.1111/j.1439-0388.2005.00510.x

Summary A 5‐year‐old Thoroughbred mare was subjected to cytogenetic and molecular analysis because of infertility and masculine behaviour. Chromosome studies, including painting with the whole X chromosome specific probe, revealed a male chromosome complement (64,XY). The PCR amplification of the SRY and ZFY genes showed the presence of both those genes, while the endocrinological study demonstrated a high level of testosterone (9.7 nmol/l). Sequencing of the SRY gene (1121 bp), comprising also 5′‐ and 3′‐UTRs, did not reveal any differences when compared with the sequence of normal stallions. It was proposed that this mare represents the androgen insensitivity syndrome (testicular feminization syndrome).