Nieprawidłowości chromosomów płci jako istotne przyczyny zaburzeń rozwoju płci kotów

Disorders of sex development (DSDs) are defined as congenital conditionsin which a mismatch between chromosomal, gonadal and anatomic sex isobserved. DSDs are quite often reported in cats. Some DSD cases are diagnoseddue to unusual coat color in males (e.g. calico or tortoiseshell). These disorders affect reproduction, behavior and may lead to an increased risk of gonadal tumorigenesis. Three main categories of DSDs, based on sex chromosomes set, have been recognized: sex chromosome DSD, XX DSD and XY DSD. Cytogenetic analysis plays a crucial role in the classification of DSD cases. In this paper, an overview of sex chromosome DSD in cats is presented. Application of advanced cytogenetic analysis allowed to identify different abnormalities of sex chromosomes, including aneuploidies (X monosomy and XXY syndrome), structural rearrangements (X/Y translocation causing transfer of the SRY gene from Y to X chromosome or Y ring chromosome), and leukocyte XX/XY chimerism. It is recommended that cats with ambiguous genitalia should be subjected to cytogenetic diagnosis. Identification of genetic background of the observed sexual abnormalities facilitates distinguishing between hereditary (caused by gene mutations), and spontaneous sex chromosome abnormalities,which occurred during gametogenesis or embryonic development. In conclusion, a close collaboration between veterinary clinicians, cat breeders, and geneticists
is highly recommended.