OMIA:000791-9615 : Persistent Mullerian duct syndrome, generic in Canis lupus familiaris (dog)

In other species: domestic cat , goat

Categories: Reproductive system phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 261550 (trait)

Links to MONDO diseases:

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: This is a type of XY difference of sexual development (XY DSD). The condition is characterized by the persistence of Müllerian derivatives (uterus and/or fallopian tubes) in otherwise normally virilized males (modified from [Orphanet:2856]).

Species-specific name: Persistent Müllerian Duct Syndrome

Species-specific symbol: PMDS

Species-specific description: Information related to persistent Mullerian duct syndrome due to AMHR2 variants previously listed here has been moved to OMIA:002775-9615 Persistent Mullerian Duct Syndrome, AMHR2-related [20/09/2023].

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Breeds: Basset Hound (Dog) (VBO_0200126), Belgian Shepherd Dog, Malinois (Dog) (VBO_0200147), German Shepherd Dog (Dog) (VBO_0200577).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000791-9615: 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.

2023 Meadows, J.R.S., Kidd, J.M., Wang, G.D., Parker, H.G., Schall, P.Z., Bianchi, M., Christmas, M.J., Bougiouri, K., Buckley, R.M., Hitte, C., Nguyen, A.K., Wang, C., Jagannathan, V., Niskanen, J.E., Frantz, L.A.F., Arumilli, M., Hundi, S., Lindblad-Toh, K., Ginja, C., Agustina, K.K., André, C., Boyko, A.R., Davis, B.W., Drögemüller, M., Feng, X.Y., Gkagkavouzis, K., Iliopoulos, G., Harris, A.C., Hytönen, M.K., Kalthoff, D.C., Liu, Y.H., Lymberakis, P., Poulakakis, N., Pires, A.E., Racimo, F., Ramos-Almodovar, F., Savolainen, P., Venetsani, S., Tammen, I., Triantafyllidis, A., vonHoldt, B., Wayne, R.K., Larson, G., Nicholas, F.W., Lohi, H., Leeb, T., Zhang, Y.P., Ostrander, E.A. :
Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol 24:187, 2023. Pubmed reference: 37582787. DOI: 10.1186/s13059-023-03023-7.
Szabo, Z., Moser, J., Vincenti, S. :
Persistent mullerian duct syndrome in a dog. Schweiz Arch Tierheilkd 165:189-0, 2023. Pubmed reference: 36852872. DOI: 10.17236/sat00389.
Welsh, P.J., McDaniel, K., Goldsmith, E.W., Ramsay, J.D., Conley, A., Owen, T.J., Ambrosini, Y.M., Ciccarelli, M. :
Case report: Persistent Müllerian duct syndrome and enlarged prostatic utricle in a male dog. Front Vet Sci 10:1185621, 2023. Pubmed reference: 37470070. DOI: 10.3389/fvets.2023.1185621.
2019 Nogueira, D.M., Armada, J.L.A., Penedo, D.M., Tannouz, V.G.S., Meyers-Wallen, V.N. :
Persistent Mullerian duct Syndrome in a Brazilian miniature schnauzer dog. An Acad Bras Cienc 91:e20180752, 2019. Pubmed reference: 31241703. DOI: 10.1590/0001-3765201920180752.
2018 De Lorenzi, L., Arrighi, S., Groppetti, D., Bonacina, S., Parma, P. :
Persistent Müllerian duct syndrome in a German shepherd dog. Sex Dev 12:288-294, 2018. Pubmed reference: 30086548. DOI: 10.1159/000492037.
Smit, M.M., Ekenstedt, K.J., Minor, K.M., Lim, C.K., Leegwater, P., Furrow, E. :
Prevalence of the AMHR2 mutation in Miniature Schnauzers and genetic investigation of a Belgian Malinois with persistent Müllerian duct syndrome. Reprod Domest Anim 53:371-376, 2018. Pubmed reference: 29194807. DOI: 10.1111/rda.13116.
2012 Meyers-Wallen, V.N. :
Gonadal and sex differentiation abnormalities of dogs and cats. Sex Dev 6:46-60, 2012. Pubmed reference: 22005097. DOI: 10.1159/000332740.
2011 Breshears, M.A., Peters, J.L. :
Ambiguous genitalia in a fertile, unilaterally cryptorchid male miniature schnauzer dog. Vet Pathol 48:1038-40, 2011. Pubmed reference: 21248100. DOI: 10.1177/0300985810396104.
2010 Vegter, A.R., Kooistra, H.S., van Sluijs, F.J., van Bruggen, L.W., Ijzer, J., Zijlstra, C., Okkens, A.C. :
Persistent Mullerian duct syndrome in a Miniature Schnauzer dog with signs of feminization and a Sertoli cell tumour. Reprod Domest Anim 45:447-52, 2010. Pubmed reference: 18954385. DOI: 10.1111/j.1439-0531.2008.01223.x.
2009 Matsuu, A., Hashizume, T., Kanda, T., Nagano, M., Sugiyama, A., Okamoto, Y., Hikasa, Y. :
A case of persistent Müllerian duct syndrome with sertoli cell tumor and hydrometra in a dog J Vet Med Sci 71:379-81, 2009. Pubmed reference: 19346713.
Meyers-Wallen, VN. :
Review and update: genomic and molecular advances in sex determination and differentiation in small animals. Reprod Domest Anim 44 Suppl 2:40-6, 2009. Pubmed reference: 19754534. DOI: 10.1111/j.1439-0531.2009.01433.x.
Pujar, S., Meyers-Wallen, VN. :
A molecular diagnostic test for persistent Müllerian duct syndrome in miniature schnauzer dogs. Sex Dev 3:326-8, 2009. Pubmed reference: 20051676. DOI: 10.1159/000273264.
Whyte, A., Monteagudo, L.V., Díaz-Otero, A., Lebrero, M.E., Tejedor, M.T., Falceto, M.V., Whyte, J., Gallego, M. :
Malformations of the epididymis, incomplete regression of the mesonephric tubules and hyperplasia of Leydig cells in canine persistence of Müllerian duct syndrome. Anim Reprod Sci 115:328-33, 2009. Pubmed reference: 19097712. DOI: 10.1016/j.anireprosci.2008.11.008.
Wu, X., Wan, S., Pujar, S., Haskins, ME., Schlafer, DH., Lee, MM., Meyers-Wallen, VN. :
A single base pair mutation encoding a premature stop codon in the MIS type II receptor is responsible for canine persistent Mullerian duct syndrome. J Androl 30:46-56, 2009. Pubmed reference: 18723470. DOI: 10.2164/jandrol.108.005736.
2004 Kuiper, H., Distl, O. :
[Intersexuality in dogs: causes and genetics] Dtsch Tierarztl Wochenschr 111:251-8, 2004. Pubmed reference: 15287579.
Kuiper, H., Wagner, F., Drögemüller, C., Distl, O. :
Persistent Mullerian duct syndrome causing male pseudohermaphroditism in a mixed-breed dog. Vet Rec 155:400-1, 2004. Pubmed reference: 15499815.
1996 Jonen, H., Nickel, R.F. :
The persistant Mullerian duct syndrome - a hereditary type of male pseudohermaphroditism in a Bassethound [German] Kleintierpraxis 41:911 ff., 1996.
1993 Meyers-Wallen, V.N., Lee, M.M., Manganaro, T.F., Kuroda, T., Maclaughlin, D., Donahoe, P.K. :
Mullerian Inhibiting Substance Is Present in Embryonic Testes of Dogs with Persistent Mullerian Duct Syndrome Biology of Reproduction 48:1410-1418, 1993. Pubmed reference: 8318594.
Meyers-Wallen, V.N. :
Genetics of sexual differentiation and anomalies in dogs and cats. Journal of Reproduction and Fertility :441-452, 1993. Pubmed reference: 8229960.
1992 Nickel, R.F., Ubbink, G., Vandergaag, I., Vansluijs, F.J. :
Persistent Mullerian Duct Syndrome in the Basset Hound Tijdschrift Voor Diergeneeskunde 117:S31, 1992.
1989 Meyers-Wallen, V.N., Donahoe, P.K., Ueno, S., Manganaro, T.F., Patterson, D.F. :
Mullerian Inhibiting Substance Is Present in Testes of Dogs with Persistent Mullerian Duct Syndrome Biology of Reproduction 41:881-888, 1989. Pubmed reference: 2576223.
1982 Marshall, LS., Oehlert, ML., Haskins, ME., Selden, JR., Patterson, DF. :
Persistent Mullerian duct syndrome in miniature schnauzers. J Am Vet Med Assoc 181:798-801, 1982. Pubmed reference: 7141975.
1976 Brown, T.T., Burek, J.D., McEntee, K. :
Male pseudohermaphroditism, cryptorchism, and Sertoli cell neoplasia in three miniature Schnauzers. J Am Vet Med Assoc 169:821-5, 1976. Pubmed reference: 10267.

Edit History

  • Created by Frank Nicholas on 09 Sep 2008
  • Changed by Vicki Meyers-Wallen on 11 Aug 2011
  • Changed by Frank Nicholas on 11 Aug 2011
  • Changed by Martha MaloneyHuss on 03 Sep 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 10 Sep 2019
  • Changed by Frank Nicholas on 02 Nov 2020
  • Changed by Imke Tammen2 on 28 Aug 2021
  • Changed by Imke Tammen2 on 05 Feb 2022
  • Changed by Imke Tammen2 on 28 Sep 2023