Androgen Insensitivity Syndrome in a Family of Warmblood Horses Caused by a 25-bp Deletion of the DNA-Binding Domain of the Androgen Receptor Gene

Research output: Contribution to journalJournal articleResearchpeer-review

  • G. Eastman Welsford
  • Rikke Munk
  • Daniel A.F. Villagómez
  • Poul Hyttel
  • W. Allan King
  • Tamas Revay

Testicular feminization, an earlier term coined for describing a syndrome resulting from failure of masculinization of target organs by androgen secretions during embryo development, has been well documented not only in humans but also in the domestic horse. The pathology, actually referred to as androgen insensitivity syndrome (AIS), has been proposed to follow an X-linked recessive pattern of inheritance in some horse breeds already investigated. Affected individuals are characterized by a female phenotype but with a stallion genotype of 64,XY SRY+ constitution. We identified a Warmblood horse pedigree segregating AIS, where the molecular analyses of the androgen receptor gene in the family provided evidences that a 25-bp deletion of the DNA-binding domain is causative of this equine syndrome.

Original languageEnglish
JournalSexual Development
Volume11
Issue number1
Pages (from-to)40-45
Number of pages6
ISSN1661-5425
DOIs
Publication statusPublished - 2017

    Research areas

  • Androgen insensitivity syndrome, Androgen receptor gene, AR deletion, Horse, XY-DSD

ID: 184390249