A Disorder of Sex Development in a Holstein–Friesian Heifer with a Rare Mosaicism (60XX/90XXY): A Genetic Anatomical and Histological Study

摘要

Disorders of sex development (DSDs) are congenital conditions in which a discordance between chromosomal, gonadal, or phenotypic sex is observed. DSDs are serious problems in animal breeding, as they lead to sterility. In cattle, the most common form of DSD is freemartinism, which manifests as the presence of leukocyte chimerism (XX/XY), and occurs in heifers originating from heterosexual twin pregnancy. Other forms of DSD are rarely observed in this species. In this study, we describe a very rare diploid/triploid (60,XX/90,XXY) condition in a DSD heifer. Comprehensive clinical, anatomical, histopathological and genetic analysis was performed.