OMIA:000901-9796 : XX difference of sexual development, generic in Equus caballus (horse)

In other species: common carp , guppy , Japanese medaka , dog , domestic cat , pig , llama , goat

Categories: Reproductive system phene

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: This phene includes information about XX differences of sexual development (XX DSD) in animals with an XX karyotype for which the causal variant has so far not been identified. This phene has been renamed from 'XX testicular DSD (Disorder of Sexual Development)' [29/09/2023] and was previously known as Sex reversal: XX male or SRY-negative XX sex reversal.

Breeds: American Saddle Horse (Horse) (VBO_0000898), Arab (Horse) (VBO_0000905), Lusitanian (Horse) (VBO_0001017), Paso Fino (Horse) (VBO_0001040).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2012). OMIA:000901-9796: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2024 Pompermayer, E., Ysebaert, M.P., Vinardell, T., Oikawa, M.A., Jonhson, J.P., Fernandes, T., David, F. :
One-stage surgical case management of a two-year-old Arabian horse affected by male-pseudohermaphroditism. J Equine Vet Sci :S0737-0806(24)00014-5:105007, 2024. Pubmed reference: 38237706. DOI: 10.1016/j.jevs.2024.105007.
2021 Nogueira, P.P.O., Amorim, G.B.A.G., Oliveira, O.M., Demyda-Peyrás, S., Santos, B.M., Mota, L.S.L.S.D. :
Sex reversal syndrome in an Egyptian Arabian horse detected using genomic data - A case report. J Equine Vet Sci 104:103692, 2021. Pubmed reference: 34416985. DOI: 10.1016/j.jevs.2021.103692.
2013 Torres, A., Silva, J.F., Bernardes, N., Sales Luís, J., Lopes da Costa, L. :
64, XX, SRY-negative, testicular DSD syndrome in a Lusitano horse. Reprod Domest Anim 48:e33-7, 2013. Pubmed reference: 23057740. DOI: 10.1111/rda.12094.
2012 Ciotola, F., Albarella, S., Pasolini, M.P., Auletta, L., Esposito, L., Iannuzzi, L., Peretti, V. :
Molecular and cytogenetic studies in a case of XX SRY-negative sex reversal in an Arabian horse. Sex Dev 6:104-7, 2012. Pubmed reference: 22025175. DOI: 10.1159/000331480.
Pujar, S., Meyers-Wallen, V. :
Sequence variations in equine candidate genes for XX and XY inherited disorders of sexual development. Reprod Domest Anim 47:827-834, 2012. Pubmed reference: 22239239. DOI: 10.1111/j.1439-0531.2011.01976.x.
2007 Bannasch, D., Rinaldo, C., Millon, L., Latson, K., Spangler, T., Hubberty, S., Galuppo, L., Lowenstine, L. :
SRY negative 64,XX intersex phenotype in an American saddlebred horse. Vet J 173:437-9, 2007. Pubmed reference: 16386440. DOI: 10.1016/j.tvjl.2005.11.008.
Kuiper, H., Distl, O. :
[Intersexuality in horses] Dtsch Tierarztl Wochenschr 114:50-6, 2007. Pubmed reference: 17341020.
2001 Vaughan, L., Schofield, W., Ennis, S. :
SRY-negative XX sex reversal in a pony: A case report Theriogenology 55:1051-1057, 2001. Pubmed reference: 11322233.
2000 Buoen, L.C., Zhang, T.Q., Weber, A.F., Ruth, G.R. :
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, 2000. Pubmed reference: 10661390.
1997 Meyerswallen, V.N., Hurtgen, J., Schlafer, D., Tulleners, E., Cleland, W.R., Ruth, G.R., Acland, G.M. :
SRY-negative XX true hermaphroditism in a Pasa Fino horse Equine Veterinary Journal 29:404-408, 1997. Pubmed reference: 9306070.
Mittwoch, U. :
Sex reversal in the horse - 2 sides of a common coin Equine Veterinary Journal 29:333-334, 1997. Pubmed reference: 9306057.
1995 Milliken, J.E., Paccamonti, D.L., Shoemaker, R.S., Green, W.H. :
XX male pseudohermaphroditism in a horse Journal of the American Veterinary Medical Association 207:77-79, 1995. Pubmed reference: 7601700.
1994 Constant, S.B., Larsen, R.E., Asbury, A.C., Buoen, L.C., Mayo, M. :
XX male syndrome in a cryptorchid stallion. Journal of the American Veterinary Medical Association 205:83-85, 1994. Pubmed reference: 7928556.

Edit History

  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 17 Oct 2012