Molecular and cytogenetic studies in a case of XX SRY -Negative sex reversal in an Arabian horse

F. Ciotola, S. Albarella, M. P. Pasolini, L. Auletta, L. Esposito, L. Iannuzzi, Vincenzo Peretti

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)104-107
Number of pages4
JournalSexual Development
Issue number1-3
Publication statusPublished - Feb 2012


  • Arabian horse
  • RSPO1
  • Sex reversal syndrome
  • SRY

ASJC Scopus subject areas

  • Developmental Biology
  • Embryology
  • Endocrinology, Diabetes and Metabolism
  • Medicine(all)


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