Freick Markus, Jacinto Joana G P, Häfliger Irene M, Weber Jim, Behn Holger, Schreiter Ruben, Drögemüller Cord
Institute of Agricultural and Nutritional Sciences, Martin Luther University Halle-Wittenberg, Halle (Saale), Germany.
Faculty of Agriculture/Environment/Chemistry, HTW Dresden - University of Applied Sciences, Dresden, Germany.
Anim Genet. 2025 Feb;56(1):e13489. doi: 10.1111/age.13489. Epub 2024 Nov 3.
Hypospadias occurs sporadically in male livestock and is characterized by a non-fused urethra during fetal development. In this study, perineal hypospadias, a bifid scrotum, penile hypoplasia, and bilateral abdominal cryptorchidism were diagnosed in a neonatal Holstein male calf. Septicemia was also suspected due to hypothermia, blurred conjunctivae, and loss of sucking and swallowing reflexes. Gross pathology revealed that both testicles were located intraabdominally caudally to the kidneys. Histopathological examination of the hypospadias showed a urothelium-lined mucosal fold and parts of the corpus cavernosum penis and prepuce in the subcutis. Whole genome sequencing was performed on the affected calf. Analysis of short-read coverage depth along the chromosomes identified an entire extra copy of chromosome 26. Based on the comparison of available variant calling data from the sire, the identified trisomy 26 is due to non-disjunction of homologous chromosomes during the generation of paternal gametes. We have shown for the first time an association between bovine hypospadias and trisomy 26, which adds to the understanding of variation in fetal male sexual development.
尿道下裂在雄性家畜中偶有发生，其特征是胎儿发育期间尿道未融合。在本研究中，一头新生荷斯坦公牛犊被诊断出患有会阴型尿道下裂、阴囊分裂、阴茎发育不全和双侧腹内隐睾。由于体温过低、结膜模糊以及吸吮和吞咽反射丧失，还怀疑患有败血症。大体病理学检查显示，两个睾丸位于肾尾侧的腹腔内。尿道下裂的组织病理学检查显示，皮下有内衬尿路上皮的黏膜皱襞以及阴茎海绵体和包皮的部分组织。对患病犊牛进行了全基因组测序。对沿染色体的短读长覆盖深度分析确定了26号染色体的一整条额外拷贝。根据来自父系的可用变异位点数据比较，鉴定出的26号染色体三体是由于父系配子产生过程中同源染色体不分离所致。我们首次证明了牛尿道下裂与26号染色体三体之间的关联，这有助于加深对胎儿男性性发育变异的理解。
