Abstract：
A 1-year-old European shorthair male cat with a normally developed penis was subjected to genetic, endocrinological and histological studies due to unilateral cryptorchidism. The blood testosterone level was typical for males, while the level of anti-Mullerian hormone (AMH) was very low. Surgical removal of internal reproductive organs was followed by a histological study, which revealed inactive testicles with neoplastic changes and derivatives of Mullerian ducts. Cytogenetic analysis showed a normal XY sex chromosome complement and molecular analysis confirmed the presence of Y-linked genes (SRY and ZFY). Although the level of AMH was low, two normal copies of the AMH gene were found using droplet digital PCR (ddPCR). Analysis of the coding sequences of two candidate genes (AMH and AMHR2) for persistent Mullerian duct syndrome (PMDS) in the affected cat and in control male cats (n = 24) was performed using the Sanger sequencing method. In the affected cat, homozygosity was found for three novel missense variants in Exon 1 (one SNP) and Exon 5 (two SNPs) of AMH, but the same homozygous genotypes were also observed in one and two control cats, respectively, whose sex development was not examined. Three known synonymous variants with homozygous status were found in AMHR2. We conclude that the DNA variants identified in AMH and AMHR2 are not responsible for PMDS in the affected cat.
摘要：
一只1岁的欧洲短小公猫，阴茎正常发育，由于单侧隐睾的内分泌和组织学研究。男性的血睾酮水平很典型,而抗苗勒管激素（AMH）的水平非常低。手术切除内部生殖器官后进行了组织学研究，显示睾丸不活跃，肿瘤改变和穆勒管衍生物。细胞遗传学分析显示正常的XY性染色体补体，分子分析证实存在Y连锁基因（SRY和ZFY）。虽然AMH水平较低,使用液滴数字PCR(ddPCR)发现AMH基因的两个正常拷贝。使用Sanger测序方法对受影响的猫和对照雄性猫（n=24）中的持续苗勒管综合征（PMDS）的两个候选基因（AMH和AMHR2）的编码序列进行了分析。在受影响的猫中，在AMH的外显子1（一个SNP）和外显子5（两个SNP）中发现了三个新的错义变体的纯合性，但是在一只和两只对照猫中也观察到相同的纯合基因型，分别,他们的性发育没有被检查。在AMHR2中发现了三种具有纯合状态的已知同义变体。我们得出的结论是，在AMH和AMHR2中鉴定的DNA变体与受影响的猫中的PMDS无关。
