Chromosome abnormalities in dogs with disorders of sex development (DSD)

• Published in: Animal reproduction science Vol. 230; p. 106771
• Main Authors: Szczerbal, Izabela, Nizanski, Wojciech, Dzimira, Stanislaw, Nowacka-Woszuk, Joanna, Stachecka, Joanna, Biezynski, Janusz, Ligocka, Zuzanna, Jagodka, Dariusz, Fabian-Kurzok, Hanna, Switonski, Marek
• Format: Journal Article
• Language: English
• Published: Elsevier B.V 01-07-2021
• Subjects: Aneuploidy; Centric fusion; Intersexuality; Reciprocal translocation; Sex chromosomes; Sex chromosomes; Aneuploidy; Centric fusion; Intersexuality; Reciprocal translocation
• ISSN: 0378-4320; 1873-2232
• DOI: 10.1016/j.anireprosci.2021.106771

•Disorders of sex development (DSD) in dogs can be caused by chromosome aberrations.•Five different chromosomal abnormalities in female DSD dogs were identified.•A spectrum of sexual defects were observed.•Classical cytogenetic analysis of DSD dogs should be completed with molecular techniques.
Disorders of sex development (DSD) caused by chromosome abnormalities are rarely diagnosed in dogs. In this report, there is a focus on five DSD cases in which the dogs had abnormal karyotypes. All animals were recognized by owners as females, however, these dogs had a large number of reproductive defects. Among these were abnormal external genitalia such as an enlarged clitoris, abnormal development of the labia, abnormal location of the vulva and urethral orifice, and other abnormalities were observed in four dogs. Gonadal histology assessments were conducted on three dogs and there were diagnoses of the presence of an ovary, inactive testes, and ovotestis with calcification in ovarian follicles. Results from cytogenetic analysis indicated there were the following karyotypes: (a) X trisomy in a mosaic form (79,XXX/78,XX); (b) Robertsonian translocation in a mosaic form (77,XX,rob/78,XX); (c) nonmosaic X/autosome translocation (78,X,t(X;A)); (d) X/autosome translocation in a mosaic form (78,X,t(X;A)/78,XX); and (e) leukocyte chimerism (78,XX/78,XY). The findings in the present study, emphasize that cytogenetic analysis is essential for elucidating the pathogenesis of DSD in dogs.