OMIA:000243-9685 : Cryptorchidism in Felis catus (domestic cat)

In other species: dog , puma , horse , pig , Arabian camel , llama , taurine cattle , goat , sheep , domestic yak , alpaca

Categories: Reproductive system phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 219050 (trait)

Links to MONDO diseases:

Mendelian trait/disorder: no

Considered a defect: yes

Key variant known: no

Cross-species summary: Failure of one (unilateral) or both (bilateral) testes to descend.

Species-specific description: Cryptorchidism is characterized by the presence of one or two undescended testes in an otherwise phenotypically normal male (isolated cryptorchidism). It is uncommon in this species. Breeding of affected cats is discouraged. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT, modified by Imke Tammen [28/09/2023]

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

Clinical features: Affected cats have either one or two undescended testes. Since verification of scrotal testes by palpation is challenging in young kittens, affected cats are often diagnosed when presented for neutering. The undescended testis may be located anywhere from the caudal pole of the kidney to the inguinal canal, or outside of the canal but cranial to the scrotum (Meyers-Wallen, 2011).

Pathology: Unilateral cryptorchid cats may have reduced fertility and bilateral cryptorchid cats are sterile, as spermatogonia are depleted in undescended testes. Cryptorchid testes can occur in association with other types of XY DSD, such as XY sex reversal (Schlafer et al., 2011; OMIA#000791-9685) and Persistent Müllerian Duct Syndrome (Schulman and Levine 1989; OMIA#000791-9685)). As testes descend, they transit through the abdomen and inguinal canal to the scrotum. Testosterone and INSL3 (insulin like factor 3), both secreted by Leydig cells, induce growth and differentiation of the gubernaculum, which is needed for normal testicular descent. Mutations in INSL3 or its receptor (LGR8/GREAT) cause cryptorchidism in humans, but analogous mutations have not been investigated in cats. Human males with heterozygous INSL3 mutations are unilaterally cryptorchid at birth, but the testis usually descended at puberty (Tomboc et al., 2000, Ferlin et al., 2003). Other candidate genes for human cryptorchidism include the androgen receptor (AR) and estrogen receptor (ER, Pathirana, 2010).

Prevalence: Feline isolated cryptorchidism is uncommon, ranging from only 1.3% to 1.7% of cats presented for neutering. Most affected cats are unilaterally cryptorchid, and Persians may have a higher prevalence than other breeds (Yates et al., 2003; Millis et al., 1992).

Control: Breeding of fertile cryptorchid animals (as well as their parents or siblings) is discouraged. The AVMA states that it is unethical for a veterinarian to surgically correct cryptorchidism without also sterilizing the animal.

Genetic testing: There are no genetic tests available at this time.

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000243-9685: 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.

2022 Foster, R.A. :
Disorders of sexual development in the cat: Current state of knowledge and diagnostic approach. J Feline Med Surg 24:257-265, 2022. Pubmed reference: 35209773. DOI: 10.1177/1098612X221079711.
2021 Chai, S., Huang, X., Wu, T., Xu, S., Ren, W., Yang, G. :
Comparative genomics reveals molecular mechanisms underlying health and reproduction in cryptorchid mammals. BMC Genomics 22:763, 2021. Pubmed reference: 34702182. DOI: 10.1186/s12864-021-08084-1.
2015 Balogh, O., Berger, A., Pieńkowska-Schelling, A., Willmitzer, F., Grest, P., Janett, F., Schelling, C., Reichler, I.M. :
37,X/38,XY Mosaicism in a Cryptorchid Bengal Cat with Müllerian Duct Remnants. Sex Dev 9:327-32, 2015. Pubmed reference: 26771191. DOI: 10.1159/000443233.
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 Schlafer, D.H., Valentine, B., Fahnestock, G., Froenicke, L., Grahn, R.A., Lyons, L.A., Meyers-Wallen, V.N. :
A case of SRY-positive 38,XY true hermaphroditism (XY sex reversal) in a cat. Vet Pathol 48:817-22, 2011. Pubmed reference: 20861501. DOI: 10.1177/0300985810382093.
2010 Pathirana, IN., Tanaka, K., Kawate, N., Tsuji, M., Kida, K., Hatoya, S., Inaba, T., Tamada, H. :
Analysis of single nucleotide polymorphisms in the 3' region of the estrogen receptor 1 gene in normal and cryptorchid Miniature Dachshunds and Chihuahuas. J Reprod Dev 56:405-10, 2010. Pubmed reference: 20453437.
2008 Birchard, SJ., Nappier, M. :
Cryptorchidism. Compend Contin Educ Vet 30:325-36; quiz 336-7, 2008. Pubmed reference: 18690608.
2003 Ferlin, A., Simonato, M., Bartoloni, L., Rizzo, G., Bettella, A., Dottorini, T., Dallapiccola, B., Foresta, C. :
The INSL3-LGR8/GREAT ligand-receptor pair in human cryptorchidism. J Clin Endocrinol Metab 88:4273-9, 2003. Pubmed reference: 12970298.
Yates, D., Hayes, G., Heffernan, M., Beynon, R. :
Incidence of cryptorchidism in dogs and cats Veterinary Record 152:502-4, 2003. Pubmed reference: 12733559.
2001 Bruce, D. :
Cryptorchidism in cats Veterinary Record 149:280, 2001. Pubmed reference: 11558670.
Davidson, D. :
Cryptorchidism and alopecia in cats Veterinary Record 149:311-312, 2001. Pubmed reference: 11570800.
2000 Tomboc, M., Lee, P.A., Mitwally, M.F., Schneck, F.X., Bellinger, M., Witchel, S.F. :
Insulin-like 3/relaxin-like factor gene mutations are associated with cryptorchidism. J Clin Endocrinol Metab 85:4013-8, 2000. Pubmed reference: 11095425.
1993 Richardson, E.F., Mullen, H. :
Cryptorchidism in Cats Compendium on Continuing Education for the Practicing Veterinarian 15:1342-1345, 1993.
1992 Millis, D.L., Hauptman, J.G., Johnson, C.A. :
Cryptorchidism and Monorchism in Cats - 25 Cases (1980-1989) Journal of the American Veterinary Medical Association 200:1128-1130, 1992. Pubmed reference: 1351479.
1989 Schulman, J., Levine, SH. :
Pyometra involving uterus masculinus in a cat. J Am Vet Med Assoc 194:690-1, 1989. Pubmed reference: 2925486.

Edit History

  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Martha MaloneyHuss on 08 Sep 2011
  • Changed by Imke Tammen2 on 28 Sep 2023