OMIA:001601-9685 : XY difference of sexual development, generic in Felis catus (domestic cat)

In other species: dog , horse , taurine cattle

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 XY differences of sexual development (XY DSD) in animals with a normal XY karyotype for which so far no causal variants have been identified. Renamed from 'XY DSD (Disorder of Sexual Development), SRY-positive' [28/09/2023] Renamed from 'Sex reversal: XY female, SRY-positive' [22/10/2021]

Species-specific description: Stachowiak et al. (2022) "performed comprehensive cytogenetic, molecular, and histological studies of 17 cats with abnormal external genitalia, unusual behavior, or tricolor coats (atypical in males). The DSD phenotype of three cats was associated with sex chromosome abnormalities: X/Y translocation (38,XXSRY+), 37,X/38,XY mosaicism, and XX/XY leukocyte chimerism. The remaining 14 affected cats were classified as XY DSD (SRY-positive)."

Markers: Stachowiak et al. (2022): "In this group and 38 normal males, we analyzed a priori selected candidate genes (SRY, TAC3, CYP11B1 and LHCGR). ... SRY gene copy number was determined, and three variants were observed: 6, 5 (modal), and 4 copies in a single DSD case. The known variants in TAC3 and CYP11B1, responsible for testicular hypoplasia, persistent primary dentition or congenital adrenal hyperplasia, were not found in the study group. Nine novel polymorphisms were identified in the LHCGR gene, one of which, a potentially regulatory indel variant in 5'UTR, was significantly associated (p = 0.0467) with XY DSD."

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:001601-9685: 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 Stachowiak, M., Szczerbal, I., Nowacka-Woszuk, J., Nowak, T., Sowinska, N., Lukomska, A., Gogulski, M., Badura, M., Sklorz-Mencel, K., Jagodka, D., Nizanski, W., Dzimira, S., Switonski, M. :
Cytogenetic and molecular insight into the genetic background of disorders of sex development in seventeen cats. Sci Rep 12:17807, 2022. Pubmed reference: 36280698. DOI: 10.1038/s41598-022-21718-y.
2020 Szczerbal, I., Switonski, M. :
Genetic disorders of sex development in cats: An update. Anim Reprod Sci 216:106353, 2020. Pubmed reference: 32414464. DOI: 10.1016/j.anireprosci.2020.106353.
2015 PieĊ„kowska-Schelling, A., Becker, D., Pineroli, B., Schelling, C. :
Ein Fall von SRY positiver Sex-Umkehr bei einer Hauskatze [A case of SRY positive sex reversal in a domestic cat]. Schweiz Arch Tierheilkd 157:157-9, 2015. Pubmed reference: 26753328. DOI: 10.17236/sat00013.
2014 Nowacka-Woszuk, J., Szczerbal, I., Salamon, S., Kociucka, B., Jackowiak, H., Prozorowska, E., Slaska, B., Rozanska, D., Orzelski, M., Ochota, M., Dzimira, S., Lipiec, M., Nizanski, W., Switonski, M. :
Testicular disorder of sex development in four cats with a male karyotype (38,XY; SRY-positive). Anim Reprod Sci 151:42-8, 2014. Pubmed reference: 25455261. DOI: 10.1016/j.anireprosci.2014.10.001.
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.
1997 Bredal, W.P., Thoresen, S.I., Kvellestad, A., Lindblad, K. :
Male pseudohermaphroditism in a cat Journal of Small Animal Practice 38:21-24, 1997. Pubmed reference: 9121130.

Edit History

  • Created by Imke Tammen2 on 10 Nov 2022
  • Changed by Imke Tammen2 on 10 Nov 2022