Irregular reproductive cyclicity in a mare with a mosaic karyotype:
64,XX/64,XY/63,XO
Abstract
A five-year-old Oldenburg maiden mare presented for reproductive
evaluation following several months, where the owner noticed the mare
exhibiting irregular behavioral estrus. After an initial attempt to
manage the mare with an estrus suppression medication, a more thorough
investigation was performed, ultimately leading to the identification of
several reproductive anatomical abnormalities and sex chromosome
karyotyping, which allowed for the diagnosis of sex chromosome
mosaicism. Based on a recent literature search, this is the first report
of 64,XX/64,XY/63,XO mosaicism in a mare, where abnormal and irregular
behavioral issues were the primary presenting sign. This report
describes the clinical signs and diagnostic investigation that led to
the eventual diagnosis and further discusses how such a common and
seemingly innocuous presenting problem, can have a complex underlying
etiology, with significant implications for the horse’s future working,
and reproductive potential.