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

Authors


Marek Switonski, Department of Genetics and Animal Breeding, August Cieszkowski Agricultural University of Poznan, Wolynska 33, 60-637 Poznan, Poland. Tel/Fax: 48 61 8487246;
E-mail: switonsk@jay.au.poznan.pl

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).

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