Monteagudo L V, Arruga M V, Bonafonte J I, Ordás M, Whyte A, Gallego M, Bascuas J A, Sierra I
Laboratory of Cytogenetics and Molecular Genetics, University of Zaragoza, Faculty of Veterinary Science, Zaragoza, Spain.
Vet Pathol. 2008 Jan;45(1):42-5. doi: 10.1354/vp.45-1-42.
A 6-year-old, sterile, Blanca Celtibérica breed adult doe was referred to our faculty. The doe had external female genitalia, a short anogenital distance, and normally shaped udders. Masculinization signs in the head shape and male behavior were also noted at the time of referral. Genetic analysis demonstrated normal 2n = 60 XX karyotype and an absence of the sex-determining region Y (SRY). The animal was homozygous for a DNA deletion responsible for the Polled Intersex Syndrome (PIS). A uterus and 2 uterine horns were present at the postmortem examination. Gartner's ducts and degenerated Wolffian derivatives persisted. There were 2 intra-abdominal testicle-like structures, one of which consisted of epididymal and deferent ducts. An advanced Leydig cell tumor, resulting in almost total destruction of the intratesticular structures, was also observed. Leydig cell tumors usually produce testosterone. Thus, these histologic findings are compatible with the evident virilization.
一只6岁、未生育的布兰卡·凯尔特伊比利亚成年母鹿被转诊至我们学院。这只母鹿具有雌性外生殖器,肛门与生殖器间距离较短,乳房形状正常。转诊时还注意到其头部形状有雄性化迹象以及雄性行为。基因分析显示其核型正常,为2n = 60 XX,且不存在Y染色体性别决定区(SRY)。该动物因负责无角雌雄同体综合征(PIS)的DNA缺失而呈纯合状态。尸检发现有一个子宫和两个子宫角。加特纳管和退化的沃尔夫管衍生物持续存在。有两个腹腔内睾丸样结构,其中一个由附睾管和输精管组成。还观察到一个晚期莱迪希细胞瘤,导致睾丸内结构几乎完全被破坏。莱迪希细胞瘤通常会产生睾酮。因此,这些组织学发现与明显的雄性化相符。