An 18-month-old Arabian foal characterized by a stallionlike appearance was submitted for cytogenetic and molecular genetics examinations due to abnormalities of external genitalia and the presence of ovotestis-like structures in the abdominal cavity. By RB-banding the animal showed the normal female equine karyotype (2n = 64,XX). Molecular analysis revealed the absence of the SRY and ZFY genes and the presence of ZFX , a typical female equine condition. The entire RSPO1 coding region was examined to exclude its involvement. Although a SNP was found in exon 3, it was not responsible for an amino acid substitution.
- Arabian horse
- Sex reversal syndrome
ASJC Scopus subject areas
- Developmental Biology
- Endocrinology, Diabetes and Metabolism