Sex reversal syndrome (64,XY; SRY-positive) in a mare demonstrating masculine behaviour.
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).
Switonski
M
M
Department of Genetics and Animal Breeding, August Cieszkowski Agricultural University of Poznan, Poznan, Poland/ switonsk@jay.au.poznan.pl
Chmurzynska
A
A
Szczerbal
I
I
Lipczynski
A
A
Yang
F
F
Nowicka-Posłuszna
A
A
D000818:Animals; D002869:Chromosome Aberrations / Q000662:veterinary*; D025063:Chromosome Disorders / Q000235:genetics / Q000662:veterinary*; D020732:Cytogenetic Analysis / Q000662:veterinary; D005260:Female; D024282:Genes, sry / Q000235:genetics; D005836:Genitalia, Female / Q000002:abnormalities; D006734:Horse Diseases / Q000097:blood / Q000235:genetics*; D006736:Horses; D017422:Sequence Analysis, DNA / Q000662:veterinary; D012726:Sexual Behavior, Animal / Q000502:physiology; D013739:Testosterone / Q000097:blood; D014960:X Chromosome / Q000235:genetics*
D013739:Testosterone