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Sex reversal syndrome in a mare
Mares behaving like stallions are sometimes seen in veterinary practice. They often cause problems in handling, riding and so on. In this case report, an unusual diagnosis in such a mare finally could be made: She had hormonal problems, called testicular feminization syndrome!

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).



Source: Switonski, M., Chmurzynska, A., Szczerbal, I., Lipczynski, A., Yang, F. & Nowicka-Posuszna, A. (2005): Sex reversal syndrome (64,XY; SRY-positive) in a mare demonstrating masculine behaviour. In: Journal of Animal Breeding and Genetics 122 (s1), 60-63.




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EQUINE

Limbal squamous cell carcinoma in a Rocky Mountain Horse and geneticsmembers
One privately owned Rocky Mountain Horse and 84 Rocky Mountain Horses screened for allelic frequency were enrolled in this study. The objective: To document a case of limbal squamous cell carcinoma (SCC) in a Rocky Mountain Horse stallion determined to be homozygous for the genetic risk factor (DDB2 c.1013C>T) strongly associated with the disease in Haflinger and Belgian horses, and to determine the frequency of this allele in a larger population of Rocky Mountain Horses.

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