XY sex reversal syndrome in the mare: clinical and behavioral studies, H-Y phenotype.
Abstract: An inherited genetic disorder causes XY embryos of the horse to develop as mares. On the basis of our study of 38 such mares, we have identified four grades or classes of XY sex reversal according to this scheme: class I, nearly normal female, of which some are fertile; class II, female with gonadal dysgenesis, normal mullerian development; class III, intersex mare with gonadal dysgenesis, abnormal mullerian development, enlarged clitoris; class IV, virilized intersex characterized by high levels of testosterone. In general, class I and class II mares were typed H-Y antigen-negative whereas class III and class IV mares were typed H-Y antigen-positive.
Publication Date: 1988-08-01 PubMed ID: 3410457DOI: 10.1007/BF00282169Google Scholar: Lookup
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- Journal Article
- Research Support
- U.S. Gov't
- P.H.S.
Summary
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This research article details a study on XY sex reversal syndrome in horses, a disorder which causes XY embryos to develop as females, and classifies it into four categories. The research investigates characteristics and differences between these categories.
XY Sex Reversal Syndrome
- This genetic condition in horses causes embryos that would biologically be expected to develop as males to develop as females instead. This occurs due to an inherited genetic disorder.
- The research was performed on 38 affected mares to investigate the varying symptoms and manifestations of this disorder.
Classification of the Syndrome
- The research team developed a classification system with four distinct categories based on the physical and hormonal symptoms of the disorder.
- Class I encompasses those that are nearly normal females, and some specimens in this group are even fertile.
- Class II includes females with gonadal dysgenesis but normal mullerian development, which involves the formation of the female reproductive tract.
- Class III comprises intersex mares with gonadal dysgenesis and abnormal mullerian development, displaying signs like an enlarged clitoris.
- Finally, Class IV mares are intersex but also show virilization – physical changes due to high levels of testosterone, a male hormone.
H-Y Antigen
- The researchers also studied the presence or absence of the H-Y antigen in the horses.
- The H-Y antigen is a sex-determinant, and its presence or lack thereof has been associated with different classes of the syndrome.
- Typically, mares in Class I and Class II were not found with the H-Y antigen, while it was found in horses categorized into Class III and Class IV.
Overall, this study provides a solid understanding of the XY sex reversal syndrome in horses and paves the way for further research into diagnosing, understanding, and potentially treating this disorder.
Cite This Article
APA
Kent MG, Shoffner RN, Hunter A, Elliston KO, Schroder W, Tolley E, Wachtel SS.
(1988).
XY sex reversal syndrome in the mare: clinical and behavioral studies, H-Y phenotype.
Hum Genet, 79(4), 321-328.
https://doi.org/10.1007/BF00282169 Publication
Researcher Affiliations
- Department of Obstetrics and Gynecology, University of Tennessee, Memphis 38163.
MeSH Terms
- Animals
- Behavior, Animal / physiology
- Disorders of Sex Development / pathology
- Disorders of Sex Development / veterinary
- Female
- Genitalia, Female / pathology
- Gonadal Dysgenesis, Mixed / pathology
- Gonadal Dysgenesis, Mixed / veterinary
- H-Y Antigen / analysis
- Horse Diseases / genetics
- Horse Diseases / pathology
- Horses / genetics
- Male
- Pedigree
- Phenotype
- Sex Determination Analysis
- Testis / pathology
Grant Funding
- AI-23479 / NIAID NIH HHS
References
This article includes 12 references
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- McLaren A, Simpson E, Tomonari K, Chandler P, Hogg H. Male sexual differentiation in mice lacking H-Y antigen.. Nature 1984 Dec 6-12;312(5994):552-5.
- Jost A. Hormonal factors in the sex differentiation of the mammalian foetus.. Philos Trans R Soc Lond B Biol Sci 1970 Aug 6;259(828):119-30.
- Chandley AC, Fletcher J, Rossdale PD, Peace CK, Ricketts SW, McEnery RJ, Thorne JP, Short RV, Allen WR. Chromosome abnormalities as a cause of infertility in mares.. J Reprod Fertil Suppl 1975 Oct;(23):377-83.
- Sharp AJ, Wachtel SS, Benirschke K. H-Y antigen in a fertile XY female horse.. J Reprod Fertil 1980 Jan;58(1):157-60.
- Trommershausen-Smith A, Hughes JP, Neely DP. Cytogenetic and clinical findings in mares with gonadal dysgenesis.. J Reprod Fertil Suppl 1979;(27):271-6.
- Kieffer NM. Male pseudohermaphroditism of the testicular feminizing type in a horse.. Equine Vet J 1976 Jan;8(1):38-41.
- Jaswaney VL, Wachtel SS. Differential expression of H-Y antigen on lymphocyte subsets: analysis by flow cytometry.. Differentiation 1987;35(2):115-21.
- Robboy SJ, Miller T, Donahoe PK, Jahre C, Welch WR, Haseltine FP, Miller WA, Atkins L, Crawford JD. Dysgenesis of testicular and streak gonads in the syndrome of mixed gonadal dysgenesis: perspective derived from a clinicopathologic analysis of twenty-one cases.. Hum Pathol 1982 Aug;13(8):700-16.
- Burgoyne PS, Levy ER, McLaren A. Spermatogenic failure in male mice lacking H-Y antigen.. Nature 1986 Mar 13-19;320(6058):170-2.
- Kent MG, Shoffner RN, Buoen L, Weber AF. XY sex-reversal syndrome in the domestic horse.. Cytogenet Cell Genet 1986;42(1-2):8-18.
Citations
This article has been cited 3 times.- Bugno-Poniewierska M, Raudsepp T. Horse Clinical Cytogenetics: Recurrent Themes and Novel Findings.. Animals (Basel) 2021 Mar 16;11(3).
- Peretti V, Satué K, Ciotola F, Cristarella S, De Majo M, Biondi V, D'Anza E, Albarella S, Quartuccio M. An Unusual Case of Testicular Disorder in Sex Development of Arabian Mare (64,XX SRY-Negative).. Animals (Basel) 2020 Oct 25;10(11).
- Kent MG, Schneller HE, Hegsted RL, Johnston SD, Wachtel SS. Concentration of serum testosterone in XY sex reversed horses.. J Endocrinol Invest 1988 Sep;11(8):609-13.
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