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Peer-reviewed veterinary case report

SRY negative 64,XX intersex phenotype in an American saddlebred horse.

Journal:
Veterinary journal (London, England : 1997)
Year:
2007
Authors:
Bannasch, D et al.
Affiliation:
Department of Population Health and Reproduction · United States
Species:
horse

Plain-English summary

A female American saddlebred horse was brought in for surgery because she had a condition that made her appear to have both male and female characteristics. She had unusual external genitalia and behaved like a stallion. During surgery, the vets found no signs of female reproductive organs but did remove some underdeveloped tissue that resembled testicles, which did not contain any sperm cells. Genetic testing confirmed she had the normal female chromosome pattern, and tests for a specific male gene were negative. This case is the first known instance of this particular condition in an American saddlebred horse, which may be passed down through generations.

Abstract

A female American saddlebred horse was presented for surgical correction of a possible pseudohermaphrodite condition. The horse had abnormal external genitalia and exhibited stallion-like behaviour. No evidence of uterine or ovarian tissue was identified on laparoscopic examination, but hypoplastic testicular-like tissue was removed, although this was found to contain no spermatogonia upon histopathological examination. A karyotype was performed and showed the normal chromosomal complement for a female horse (64,XX). Polymerase chain reaction to detect the SRY gene was negative in peripheral blood as well as the testicular-like tissue. This case represents the first report of an SRY negative XX-male sex reversal intersex phenotype, which is a potentially inherited condition, in an American saddlebred horse.

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Original publication: https://pubmed.ncbi.nlm.nih.gov/16386440/