OMIA 000901-9796 : XX testicular DSD (Disorder of Sexual Development) in Equus caballus

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

Possibly relevant human trait(s) and/or gene(s) (MIM number): 278850 (trait)

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: Previously known as Sex reversal: XX male or SRY-negative XX sex reversal. The present name (XX testicular DSD) corresponds to the recommendations on nomenclature for disorders of sexual development (DSD) proposed by Lee et al. (Pediatrics 2006;118;e488; DOI: 10.1542/peds.2006-0738).

Breeds: American Saddlebred, Arabian, Lusitano, Paso Fino.


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.
2021 Pirosanto, Y., Laseca, N., Valera, M., Molina, A., Moreno-Millán, M., Bugno-Poniewierska, M., Ross, P., Azor, P., Demyda-Peyrás, S. :
Screening and detection of chromosomal copy number alterations in the domestic horse using SNP-array genotyping data. Anim Genet 52:431-439, 2021. Pubmed reference: 34013628. DOI: 10.1111/age.13077.
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.
Torres, A., Silva, J., Bernardes, N., Sales Luís, J., Lopes da Costa, L. :
64, XX, SRY-negative, Testicular DSD Syndrome in a Lusitano Horse. Reprod Domest Anim :, 2012. Pubmed reference: 23057740. DOI: 10.1111/rda.12094.
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.
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