Veterinary Hospital Referência Veterinária Montenegro, Porto, 4000-395, Portugal.
Animal and Veterinary Research Center (CECAV), University of Trás-os-Montes and Alto Douro (UTAD), Vila Real, 5000-801, Portugal.
BMC Vet Res. 2024 Jul 6;20(1):298. doi: 10.1186/s12917-024-04164-y.
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.
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.
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.
与性发育障碍（DSD）相关的性染色体异常在猫中很少见描述，主要是由于缺乏能够准确揭示这种情况的染色体研究。因此，需要采用遗传方法来检测性染色体异常，包括染色体数量和结构的变异，或者第二细胞系的存在，如镶嵌或嵌合体。
一只雄性短毛隐睾猫出现厌食、里急后重和发热的临床症状。超声检查显示一个直径约 1 厘米的充满液体的结构，紧邻降结肠。计算机断层扫描显示降结肠腹侧和膀胱尾侧有一个管状结构，向头侧延伸，通过两个分支。组织病理学评估证实存在两个萎缩的子宫角和一个发育不良的睾丸，附睾位于其中一个子宫角的末端。另一个子宫角的末端附着在一个由一团脂肪细胞组成的结构上。细胞遗传学分析显示存在嵌合 37,X/38,XY 核型。两个细胞系分别在 15%和 85%的淋巴细胞中发现。遗传分析证实血液和毛囊中存在 SRY 和 ZFY 基因，并显示睾丸中 SRY 表达明显减少。此外，该病例还呈现出异常罕见的特征，如两个子宫角均存在莱迪希细胞瘤和慢性子宫内膜炎。
应系统地进行完整的影像学检查、细胞遗传学分析和 SRY 基因表达，以正确分类猫的性发育障碍（DSD）。
