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Peer-reviewed veterinary case report

XX male syndrome in a cryptorchid stallion.

Journal:
Journal of the American Veterinary Medical Association
Year:
1994
Authors:
Constant, S B et al.
Affiliation:
Department of Large Animal Clinical Sciences · United States
Species:
horse

Plain-English summary

A stallion, which is a male horse, was found to have a rare condition called XX male syndrome, meaning he had two X chromosomes instead of the typical XY chromosomes for males. This horse had both testicles located in the groin area and they were not fully developed, along with underdeveloped reproductive organs. Interestingly, routine hormone tests would not have been enough to identify this condition. The findings highlight the importance of genetic testing in diagnosing certain reproductive issues in horses.

Abstract

A bilateral cryptorchid stallion with mild development of mammary glands was identified as an XX male by karyotyping. Necropsy revealed underdeveloped accessory sex organs and hypoplastic, inguinally located testes that were deficient of spermatogonia. Evaluation of routine hormonal profiles (without karyotyping) would have failed to diagnose this syndrome.

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Original publication: https://pubmed.ncbi.nlm.nih.gov/7928556/