title: Sex reversal syndrome in the horse: four new cases of feminization in individuals carrying a 64,XY SRY negative chromosomal complement.
abstract: Horses are characterized as having a greater rate of chromosomal abnormalities than other species, which are mainly related to the sex chromosome pair and produce a series of different anomalies known as disorders in sexual development (DSD). In the present study, three Pura Raza Española (PRE) and one Menorquín (MEN) horses were studied and an incompatibility in their genetic and phenotypic sex were detected. Animals were karyotyped by conventional and molecular cytogenetic analyses and characterized using genomic techniques. Although all individuals, were totally unrelated, these animals had the same abnormality (64,XY SRY negative DSD) despite having an anatomically normal external mare phenotype. Therefore, this syndrome could remain undiagnosed in a large percentage of cases because the physiological and morphological symptoms are rare. In the present study, a slight gonadal dysgenesis was observed only in older individuals. Interestingly this chromosomal abnormality has been previously reported less than twenty times, and never in the PRE or MEN horses. With the present research, it is demonstrated that the use of genetic and cytogenetic diagnostic tools in veterinary practice could be an important complementary test to determine the origin of unexplained reproductive failures among horses.
authors.affiliation: Laboratory of Animal Genomics, MERAGEM (AGR-158) Research Group, Department of Genetics, University of Córdoba, Spain.
authors.forename: Gabriel
authors.initials: G
authors.lastname: Anaya
authors.affiliation: Laboratory of Applied and Molecular Animal Cytogenetic, MERAGEM (AGR-158) Research Group, Department of Genetics, University of Cordoba, Spain.
authors.forename: Miguel
authors.initials: M
authors.lastname: Moreno-Millán
authors.affiliation: Laboratory of Genomics, National Research Institute of Animal Production, Krakowska 1, 32-083 Balice, Poland.
authors.forename: Monika
authors.initials: M
authors.lastname: Bugno-Poniewierska
authors.affiliation: Laboratory of Genomics, National Research Institute of Animal Production, Krakowska 1, 32-083 Balice, Poland.
authors.forename: Klaudia
authors.initials: K
authors.lastname: Pawlina
authors.affiliation: Laboratory of Animal Genomics, MERAGEM (AGR-158) Research Group, Department of Genetics, University of Córdoba, Spain.
authors.forename: Alberto
authors.initials: A
authors.lastname: Membrillo
authors.affiliation: Laboratory of Animal Genomics, MERAGEM (AGR-158) Research Group, Department of Genetics, University of Córdoba, Spain.
authors.forename: Antonio
authors.initials: A
authors.lastname: Molina
authors.affiliation: Laboratory of Applied and Molecular Animal Cytogenetic, MERAGEM (AGR-158) Research Group, Department of Genetics, University of Cordoba, Spain. Electronic address: sebass@uco.es.
authors.forename: Sebastián
authors.initials: S
authors.lastname: Demyda-Peyrás
mesh_terms: D000818:Animals; D012734:Disorders of Sex Development / Q000235:genetics / Q000662:veterinary*; D005260:Female; D006734:Horse Diseases / Q000235:genetics*; D006736:Horses; D059785:Karyotype; D008297:Male; D010641:Phenotype
keywords: Chromosomal abnormalities; Horse infertility diagnosis; In situ fluorescent hybridization; Microsatellite analysis