Androgen insensitivity syndrome in a thoroughbred mare (64, XY–testicular feminization).
Abstract: A Thoroughbred mare was presented for stallion-like behavior. Reproductive and ultrasonographic evaluation, testosterone assays, and karyotyping confirmed a diagnosis of androgen insensitivity syndrome (64, XY--testicular feminization). Surgery to remove abdominal testicles was successful in alleviating the behavioral abnormality. This condition is discussed with reference to the current literature. Une jument Thoroughbred a été présentée parce qu’elle avait un comportement d’étalon. Une évaluation reproductrice et échographique, des dosages de testostérone et un caryotypage ont confirmé un diagnostic de syndrome d’insensibilité aux androgènes (64, XY — féminisation testiculaire). Une excision chirurgicale des testicules abdominaux a corrigé le comportement anormal. Cette pathologie est discutée en référant à la littérature actuelle.
Publication Date: 2004-07-31 PubMed ID: 15283519PubMed Central: PMC548633
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Summary
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The research paper recounts a case of a Thoroughbred mare exhibiting unusual stallion-like behaviour, which was diagnosed as androgen insensitivity syndrome (64, XY–testicular feminization), and successfully treated through surgical removal of abdominal testicles.
Introduction and Presentation of the Case
- A Thoroughbred mare was brought to the attention of veterinarians due to its exhibition of typically male, or stallion-like, behaviours. This formed the basic premise for further investigation.
Diagnostic Procedure
- For a more comprehensive understanding of the situation, the mare underwent several examinations. These evaluations included a reproductive and ultrasonographic examination, testosterone assays, and karyotyping.
- The assessments provided substantial confirmation that the mare was suffering from androgen insensitivity syndrome (AIS), also known as 64, XY–testicular feminization. This is a rare condition in which a genetic male is resistant to male hormones (androgens), causing them to exhibit female physical traits.
- In this particular case, the karyotyping results were instrumental in the diagnosis. Karyotyping showed 64, XY chromosomal pattern typical to a male, despite the mare’s physical appearance being female.
Treatment and Outcome
- The mare underwent a surgical procedure to remove the abdominal testicles, the presence of which was a result of the AIS. These testicles were located internally, unlike typical external stallion testicles.
- Post-surgery, a marked change was observed in the mare’s behavior, which successfully returned to normal female behavior. This confirmed that the surgical intervention to remove the internal testicles effectively treated the mare’s behavioral abnormality.
Discussion
- The researchers discussed this particular case in the light of existing scientific literature on androgen insensitivity syndrome. The relevance and implications of this case contribute to the broader understanding of such rare conditions in equine veterinary medicine.
Cite This Article
APA
Howden KJ.
(2004).
Androgen insensitivity syndrome in a thoroughbred mare (64, XY–testicular feminization).
Can Vet J, 45(6), 501-503.
Publication
Researcher Affiliations
- Edmonton Equine Veterinary Services Inc., 12215 William Short Road, Edmonton, Alberta. howdenk@hotmail.com
MeSH Terms
- Androgen-Insensitivity Syndrome / diagnosis
- Androgen-Insensitivity Syndrome / genetics
- Androgen-Insensitivity Syndrome / surgery
- Androgen-Insensitivity Syndrome / veterinary
- Animals
- Behavior, Animal
- Female
- Horse Diseases / diagnosis
- Horse Diseases / genetics
- Horse Diseases / surgery
- Horses
- Karyotyping / veterinary
- Male
- Testis / pathology
- Testis / surgery
- Testosterone / blood
References
This article includes 7 references
- Bowling AT, Hughes JP. Cytogenetic abnormalities. Equine Reproduction Philadelphia: Lea & Febiger, 1993:258–261.
- Androgen Insensitivity Syndrome Support Group Website. What is AIS? http://www.medhelp.org/www/ais/21_OVERVIEW.HTM Last accessed Nov 11, 2003.
- AIS Support Group Australia Website. Diagnosis and Related Conditions. http://home.vicnet.net.au/~aissg/Diagnosis.htm Last accessed January 16, 2004.
- Power MM. XY sex reversal in a mare.. Equine Vet J 1986 May;18(3):233-6.
- Bugno M, Klukowska J, Słota E, Tischner M, Switoński M. A sporadic case of the sex-reversed mare (64,XY; SRY-negative): molecular and cytogenetic studies of the Y chromosome.. Theriogenology 2003 Apr 1;59(7):1597-603.
- Buergelt CD. Pathology of the Reproductive System. http://vetmed.ufl.edu/path/teach/vem5162/reproductive/lec1.htm Last accessed Nov 11, 2003.
- Jones WE. Sex reversal syndrome. Equine Vet Data 1983;4–23: 353–359.
Citations
This article has been cited 1 times.- Bugno-Poniewierska M, Raudsepp T. Horse Clinical Cytogenetics: Recurrent Themes and Novel Findings. Animals (Basel) 2021 Mar 16;11(3).
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