SRY-negative, 64,XX sex reversal in a Konik Polski horse: a case ...

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K. Jaszczak et al. Photo 6. Pseudostratified cylindrical epithelium with long stereocilia lining ductus epididymis. H and E; × 40. Photo 7. Cross-section of the right ductus epididymis with numerous epithelial folds.No sex cells in the lumen of the duct. H and E; × 250. stereocilia were seen on their upper surface. No sex cells were found in the lumen of both epididymes (Photo 7). Thus the gonads were assessed as fully sterile. The affected horse was diagnosed as having XX sex reversal syndrome on the basis of female karotype 64,XX and presence of two inter-abdominal testes and ambiguous external genitalia. PCR amplification of the SRY gene was negative in all studied tissues, including testes. The genetic mechanism by which testes development occurs in the absence of the SRY gene is unclear. There is a possibility that other genes than SRY might be responsible, but they have not been detected up to now [Buoen et al 2000, Vaughan et 386
Sex reversal in a horse al. 2001]. It is possible that mutations in an autosomal and X-linked genes allow the testes development in the absence of SRY [Vaiman and Pailhoux 2000]. Some studies have shown that Sox9 and Wnt-4 are candidates for sex reversal [Vainio et al. 1999, Qin and Bishop 2005]. It is proposed that SRY-negative XX sex reversal syndrome is inherited in the horse [Buoen et al. 2000]. The case described in this study is the first report on SRYnegative XX sex reversal in the Konik Polski Horse. It is sporadic case rather and not familial occurrence. 1. 2. 3. 4. 5. 6. 7. 8. 9. 10. 11. 12. 13. References BANNASCH D, RINALDO C, MILLON L, LATSON K, SPANGLER T, HUBBERTY S, GALUPPO L, LOWENSTINE L., 2007 – SRY negative 64,XX intersex phenotype in an American saddlebred horse. The Veterinary Journal 173 (2), 437-439 BUOEN LC, ZHANG T.Q, WEBER A.F, RUTH G.R. 2000 – SRY-negative, XX intersex horses: the need for pedigree studies to examine the mode of inheritance of the condition. Equine Veterinary Journal 32, 78-81. HIROTA K., PIUMI F., SATO F., ISHIDA N., GUÉRIN G., MIURA N., HASEGAWA T., 2001 – FISH assignment of two equine BAC clones containing SRY and ZFY. Animal Genetics 32, 326- 327. KENT M.G., SCHNELLER H.E., HEGSTED R.L., JOHNSTON S.D., WACHTEL S.S., 1988 – Concentration of serum testosterone in XY sex reversed horses. Journal of Endocrinological Investigation 11, 609-613. MEYERS-WALLEN V.N., 2006 – Genetics, genomics, and molecular biology of sex determination in small animals. Theriogenology 66, 1655-1658. MEYERS-WALLEN V.N, HURTGEN J., SCHLAFER D., TULLENERS E., CLELAND W.R, RUTH G.R, ACLAND G.M., 1997 – Sry-negative XX true hermaphroditism in a Pasa Fino horse. Equine Veterinary Journal 29, 404-408. MILLIKEN J.E., PACCAMONTI D.L., SHOEMAKER S., GREEN W.H., 1995 – XX male pseudohermaphroditism in a horse. Journal of the American Veterinary Medical Association 207, 77-79. PAILHOUX E., VIGIER B., CHAFFAUX S., SERVEL N., TAOURIT S., FURET J.P, FELLOUS M., GROSCLAUDE F., CRIBIU E.P., COTINOT C., VAIMAN D., 2001a – A 11.7-kb deletion triggers intersexuality and polledness in goats. Nature Genetics 29, 453-458. PAILHOUX E., PARMA P., SUNDSTRÖM J., VIGIER B., SERVEL N., KUOPIO T., LOCATELLI A., PELLINIEMI L.J., COTINOT C., 2001b – Time course of female-to-male sex reversal in 38,XX fetal and postnatal pigs. Developmental Dynamics 222, 328-340. PAILHOUX E., MANDON-PEPIN B., COTINOT C., 2001c – Mammalian gonadal differentiation: the pig model. Reproduction Supplement 58, 65-80. PAILHOUX E., POPESCU P.C., PARMA P., BOSCHER J., LEGAULT C., MOLTENI L., FELLOUS M., COTINOT C., 1994. Genetic analysis of 38XX males with genital ambiguities and true hermaphrodites in pigs. Animal Genetics 25, 299-305. QIN Y., BISHOP C.E., 2005 – Sox9 is sufficient for functional testis development producing fertile male mice in the absence of Sry. Human Molecular Genetics 14, 1221-1229. STUPNICKI R., 1985 – Radioimmunoassay of testosterone. In: Kokot, F., Stupnicki, R. (Eds.), Radioimmunoassay and Radiocompetition Methods Applied in Clinics. PZWL, Warsaw, pp. 273- 281. 387
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