Disorders of sex development (DSD) are rarely reported in cats, but this does not mean these occurrences are an insignificant reproductive and health problem in this species. The DSD condition affects reproduction and can be associated with an increased risk of gonadal tumorigenesis. In this review, an overview of findings since 2012 are presented that focus on cytogenetic and molecular genetic studies of cats with abnormal external genitalia. Results from advanced cytogenetic analysis of sex chromosomes indicate there is a range of abnormalities, including aneuploidies, structural rearrangements and freemartinism, which manifests as leukocyte XX/XY chimerism. The molecular abnormalities that result in feline monogenic and multifactorial DSD (such as hypospadias and cryptorchidism) are very few. There are only two mutations of genes (CYP11B1 and TAC3) which are known to be responsible for syndromes associated with abnormal sexual development. Several candidate genes (SRY, AR, SRD5A2, MAMLD1, DHH, HSD3B2, and HSD17B3) have also been examined, but no associations were identified between these polymorphisms and DSD phenotypes. The findings in developing the present review indicate sex chromosome abnormalities are quite common causes of feline DSD. The study of the molecular disorders that lead to the development of DSD in cats with normal XX or XY sex chromosome complements is still in its infancy, and further research is needed into this topic. It can be anticipated that the use of next generation sequencing technologies to study the genetic disorders that result in the DSD condition in cats will lead to an increase the detection of several causative mutations.

中文翻译：

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猫性发育的遗传性疾病：最新动态。

在猫中很少有发生性发育障碍（DSD）的报道，但这并不意味着这些发生在该物种中是无关紧要的生殖和健康问题。DSD状况影响生殖，并可能与性腺肿瘤发生的风险增加有关。在这篇综述中，概述了自2012年以来的发现，这些发现侧重于具有异常外部生殖器的猫的细胞遗传学和分子遗传学研究。对性染色体进行高级细胞遗传学分析的结果表明存在一系列异常，包括非整倍性，结构重排和自由马丁蛋白血症，表现为白细胞XX / XY嵌合现象。导致猫单基因和多因素DSD的分子异常（如尿道下裂和隐睾症）很少。只有两个基因突变（CYP11B1和TAC3）已知与异常性发育相关的综合症。还检查了几个候选基因（SRY，AR，SRD5A2，MAMLD1，DHH，HSD3B2和HSD17B3），但在这些多态性和DSD表型之间未发现关联。撰写本综述的结果表明，性染色体异常是猫DSD的常见原因。在具有正常XX或XY性染色体互补性的猫中导致DSD发生的分子疾病的研究仍处于初期阶段，需要对该主题进行进一步的研究。