Peer-reviewed veterinary case report
Sex chromosome disorder in a male domestic Shorthair cat with mosaic
By Montenegro, L et al.·Published in BMC veterinary research·2024·Veterinary Hospital Referê·View original on PubMed →
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Original publication title: Unusual sex chromosomal DSD in a domestic Shorthair cat with a 37,X/38,XY mosaic karyotype.
- Species:
- cat
Plain-English summary
A male domestic Shorthair cat was brought in because he wasn't eating, was straining to defecate, and had a fever. Tests showed he had unusual reproductive organs, including two small uterine horns and one underdeveloped testicle. Genetic testing revealed a rare condition where he had two different sets of sex chromosomes. The cat also had a tumor in his testicle and inflammation in his uterine horns. While this case is complex, it highlights the importance of thorough testing for unusual sexual development issues in cats.
People also search for: cat not eating · cat fever and straining to poop · cryptorchid cat treatment · cat reproductive problems · cat sex chromosome abnormalities
Abstract
BACKGROUND: Sex chromosome abnormalities associated with disorders of sexual development (DSD) are rarely described in cats, mainly due to the lack of chromossome studies that precisely reveal the condition. Genetic approaches are therefore required in order to detect sex chromossomes abnormalities as variations in the number and structure of chromosomes, or the presence of a second cell line as mosaicim or chimerism. CASE PRESENTATION: A male Shorthair cryptorchid cat was presented with clinical signs of anorexia, tenesmus and hyperthermia. Ultrasonography revealed a fluid-filled structure, with approximately 1 cm in diameter, adjacent to the descending colon. Computed tomography evidenced a tubular structure, ventral to the descending colon and caudal to the bladder, which extended cranially, through two branches. Histopathological evaluation confirmed the presence of two atrophic uterine horns and one hypoplastic testicle with epididymis at the end of one of the uterine horns. The end of the other uterine horn was attached to a structure composed by a mass of adipocytes. Cytogenetic analysis revealed a mosaic 37,X/38,XY karyotype. The two cell lines were found in 15% and 85% of the lymphocytes, respectively. Genetic analysis confirmed the presence of SRY and ZFY genes in blood and hair bulbs, and revealed a marked reduction in SRY expression in the testicle. Additionally, this case presented exceptionally rare features, such as a Leydig' cell tumour and a chronic endometritis in both uterine horns. CONCLUSIONS: Complete imaging workup, cytogenetic analysis and SRY gene expression should be systematically realized, in order to properly classify disorders of sexual development (DSD) in cats.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/38971779/